Bibliografias temáticas / Causative variants

Índice

Artigos de revistas
Teses / dissertações
Livros
Capítulos de livros
Trabalhos de conferências
Relatórios de organizações

Literatura científica selecionada sobre o tema "Causative variants"

Autor: Grafiati

Publicado: 12 de outubro de 2024

Última modificação: 31 de julho de 2025

Crie uma referência precisa em APA, MLA, Chicago, Harvard, e outros estilos

Selecione um tipo de fonte:

Consulte a lista de atuais artigos, livros, teses, anais de congressos e outras fontes científicas relevantes para o tema "Causative variants".

Ao lado de cada fonte na lista de referências, há um botão "Adicionar à bibliografia". Clique e geraremos automaticamente a citação bibliográfica do trabalho escolhido no estilo de citação de que você precisa: APA, MLA, Harvard, Chicago, Vancouver, etc.

Você também pode baixar o texto completo da publicação científica em formato .pdf e ler o resumo do trabalho online se estiver presente nos metadados.

Artigos de revistas sobre o assunto "Causative variants"

Pareja, Fresia, Ryan N. Ptashkin, David N. Brown, et al. "Cancer-Causative Mutations Occurring in Early Embryogenesis." Cancer Discovery 12, no. 4 (2021): 949–57. http://dx.doi.org/10.1158/2159-8290.cd-21-1110.

Texto completo da fonte

Resumo:

Abstract Mosaic mutations in normal tissues can occur early in embryogenesis and be associated with hereditary cancer syndromes when affecting cancer susceptibility genes (CSG). Their contribution to apparently sporadic cancers is currently unknown. Analysis of paired tumor/blood sequencing data of 35,310 patients with cancer revealed 36 pathogenic mosaic variants affecting CSGs, most of which were not detected by prior clinical genetic testing. These CSG mosaic variants were consistently detected at varying variant allelic fractions in microdissected normal tissues (n = 48) from distinct embr

Estilos ABNT, Harvard, Vancouver, APA, etc.

Shakil, Muhammad, Abida Akbar, Nazish Mahmood Aisha, et al. "Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families." Genes 13, no. 3 (2022): 503. http://dx.doi.org/10.3390/genes13030503.

Texto completo da fonte

Resumo:

Oculocutaneous albinism (OCA) is associated with a wide range of clinical presentations and has been categorized with syndromic and non-syndromic features. The most common causative genes in non-syndromic OCA are TYR and OCA2 and HSP1 is in the syndromic albinism. The objective of this study was to identify pathogenic variants in congenital OCA families from Pakistan. Eight consanguineous families were recruited, and clinical and ophthalmological examination was carried out to diagnose the disease. Whole blood was collected from the participating individuals, and genomic DNA was extracted for

Estilos ABNT, Harvard, Vancouver, APA, etc.

Thanikachalam, Saradadevi, Elizabeth Hodapp, Ta C. Chang, et al. "Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida." Genes 11, no. 4 (2020): 350. http://dx.doi.org/10.3390/genes11040350.

Texto completo da fonte

Resumo:

Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of other organs. To identify disease-causing variants, we performed exome sequencing in 24 South Florida families with ASD. We identified 12 likely causative variants in 10 families (42%), including single nucleotide or small insertion–deletion variants in B3GLCT, BMP4, CYP1B1, FOXC1, FOXE3, GJA1, PXDN, and TP63, and a large copy number variant involving PAX6. Four variants were novel. Each variant was detected only in one fami

Estilos ABNT, Harvard, Vancouver, APA, etc.

Bengani, Hemant, Detelina Grozeva, Lambert Moyon, et al. "Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability." PLOS ONE 16, no. 8 (2021): e0256181. http://dx.doi.org/10.1371/journal.pone.0256181.

Texto completo da fonte

Resumo:

Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinical cohort that is plausibly enriched for causative CRE mutations: 48 unrelated males with a family history consistent with X-linked intellectual disability (XLID) in whom no detectable cause could be identified in the coding regions of the X chromosome (chrX). Targeted sequencing of all chrX CRE identified six rare variants in five affected individuals that altered conserved bas

Estilos ABNT, Harvard, Vancouver, APA, etc.

Wuyun, Saina. "Causative alternation in Zuo Tradition." Language and Linguistics / 語言暨語言學 25, no. 1 (2024): 123–61. http://dx.doi.org/10.1075/lali.00151.wuy.

Texto completo da fonte

Resumo:

Abstract This study examines the different variants of causative alternation in Zuo Tradition (左傳), an archaic Chinese narrative history from the Pre-Qin period. It is found that denominal verbs, unergative verbs, and “pure” unaccusative verbs participate actively in the alternation, and that the causative variant bears a complex relation with the agentive and putative variants; this causes problems for previous analyses. This paper proposes a two-step build-up of eventuality for causative alternation in archaic Chinese. Specifically, I propose that verbs in archaic Chinese are monadic and sel

Estilos ABNT, Harvard, Vancouver, APA, etc.

Di Taranto, Maria Donata, and Giuliana Fortunato. "Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis." International Journal of Molecular Sciences 24, no. 4 (2023): 3224. http://dx.doi.org/10.3390/ijms24043224.

Texto completo da fonte

Resumo:

Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR). Two forms of the disease are possible, heterozygous (HeFH) and homozygous (HoFH), caused by one or two pathogenic variants, respectively, in the three main genes that are responsible for the autosomal dominant disease: LDLR, APOB and PCSK9 genes. The HeFH is the most common genetic disease in humans, being the prevalence about 1:300. Variants in the LDLRAP1 gene causes FH with a recessive inheritance and a specific APOE var

Estilos ABNT, Harvard, Vancouver, APA, etc.

Thongnak, Chuphong, Areerat Hnoonual, Duangkamol Tangviriyapaiboon, et al. "Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder." International Journal of Genomics 2018 (2018): 1–7. http://dx.doi.org/10.1155/2018/8231547.

Texto completo da fonte

Resumo:

Autism spectrum disorder (ASD) has a strong genetic basis, although the genetics of autism is complex and it is unclear. Genetic testing such as microarray or sequencing was widely used to identify autism markers, but they are unsuccessful in several cases. The objective of this study is to identify causative variants of autism in two Thai families by using whole-exome sequencing technique. Whole-exome sequencing was performed with autism-affected children from two unrelated families. Each sample was sequenced on SOLiD 5500xl Genetic Analyzer system followed by combined bioinformatics pipeline

Estilos ABNT, Harvard, Vancouver, APA, etc.

Moyon, Lambert, Camille Berthelot, Alexandra Louis, Nga Thi Thuy Nguyen, and Hugues Roest Crollius. "Classification of non-coding variants with high pathogenic impact." PLOS Genetics 18, no. 4 (2022): e1010191. http://dx.doi.org/10.1371/journal.pgen.1010191.

Texto completo da fonte

Resumo:

Whole genome sequencing is increasingly used to diagnose medical conditions of genetic origin. While both coding and non-coding DNA variants contribute to a wide range of diseases, most patients who receive a WGS-based diagnosis today harbour a protein-coding mutation. Functional interpretation and prioritization of non-coding variants represents a persistent challenge, and disease-causing non-coding variants remain largely unidentified. Depending on the disease, WGS fails to identify a candidate variant in 20–80% of patients, severely limiting the usefulness of sequencing for personalised med

Estilos ABNT, Harvard, Vancouver, APA, etc.

Ridgeway, Anna R., Ciara Shortall, Laura K. Finnegan, et al. "Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy." Genes 16, no. 1 (2024): 25. https://doi.org/10.3390/genes16010025.

Texto completo da fonte

Resumo:

Background: An estimated 10–15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study investigated two novel splice-altering variants, CHM NM_000390.4:c.941-11T>G and CACNA1F NM_005183.4:c.2576+4_2576+5del implicated in choroideremia and cone dystrophy (COD), respectively, resulting in significant visual loss. Methods: Next-generation sequencing was employed to identify the

Estilos ABNT, Harvard, Vancouver, APA, etc.

Monasky, Michelle M., Emanuele Micaglio, Giuseppe Ciconte, and Carlo Pappone. "Brugada Syndrome: Oligogenic or Mendelian Disease?" International Journal of Molecular Sciences 21, no. 5 (2020): 1687. http://dx.doi.org/10.3390/ijms21051687.

Texto completo da fonte

Resumo:

Brugada syndrome (BrS) is diagnosed by a coved-type ST-segment elevation in the right precordial leads on the electrocardiogram (ECG), and it is associated with an increased risk of sudden cardiac death (SCD) compared to the general population. Although BrS is considered a genetic disease, its molecular mechanism remains elusive in about 70–85% of clinically-confirmed cases. Variants occurring in at least 26 different genes have been previously considered causative, although the causative effect of all but the SCN5A gene has been recently challenged, due to the lack of systematic, evidence-bas

Estilos ABNT, Harvard, Vancouver, APA, etc.

Mais fontes

Teses / dissertações sobre o assunto "Causative variants"

Boulding, Hannah. "Identifying causative elements within structural variants associated with developmental disorders." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:d9af47cc-1c91-4a66-a6ac-86655f1ff375.

Texto completo da fonte

Resumo:

It has been well established that copy number variation contributes substantially to genetic variation within human populations. However, the extent to which de novo and inherited copy number variants (CNVs) underlie human disease is not well known. In this thesis, I investigate the role of de novo and inherited CNVs in a wide range of developmental abnormalities. First, I compare disease associated and apparently benign CNVs for structural differences, with the aim of identifying distinguishing features of disease causing CNVs. I identified significant enrichments of protein-coding genes, pro

Estilos ABNT, Harvard, Vancouver, APA, etc.

Campbell, Caitlin. "Detection of Causative Variants Using Multigene Panels in a Pediatric Population with Epilepsy." University of Cincinnati / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427812624.

Texto completo da fonte

Estilos ABNT, Harvard, Vancouver, APA, etc.

Buote, Caroline. "Application clinique du séquençage de l'exome pour le diagnostic moléculaire des syndromes polymalformatifs." Mémoire, Université de Sherbrooke, 2015. http://hdl.handle.net/11143/6941.

Texto completo da fonte

Resumo:

INTRODUCTION : Les syndromes polymalformatifs constituent un large groupe de maladies génétiques dont l'hétérogénéité limite notre capacité à identifier le gène causal à l’aide des investigations conventionnelles. Le séquençage de l'exome en clinique offre une solution à cette limitation et est maintenant disponible en recherche ou dans quelques laboratoires cliniques aux États-Unis. L'utilisation systématique du séquençage de l'exome reste encore entravée par notre capacité à gérer les trouvailles accidentelles et à prédire efficacement le ou les changements causals à partir de

Estilos ABNT, Harvard, Vancouver, APA, etc.

Wang, Wei. "Establishment of Highly Sensitive Monitoring System of Causative Agents in Acute Respiratory Infection in Children and Emergence of New Variants and of Epidemics in Shanghai, China." Paris 7, 2010. http://www.theses.fr/2010PA077248.

Texto completo da fonte

Resumo:

Les infections aiguës des voies respiratoire inférieures (ALRI) sont un problème persistant et dominant de santé publique. De nombreux virus peuvent causer une ALRI, y compris le virus respiratoire syncitial, le virus de la grippe, le virus parainfluenza, le rhinovirus, l'enterovirus, l'adénovirus et le coronavirus. Depuis l'épidémie de SRAS en 2004 et les épidémies récentes de grippe aviaire H5N1 hautement pathogène, la transmission des virus zoonotiques à l'homme pose un problème majeur de santé publique, car les contacts rapprochés entre l'animal et l'homme ou entre les hommes faciliteraien

Estilos ABNT, Harvard, Vancouver, APA, etc.

Jourdain, Jeanlin. "Détection et caractérisation de variants génétiques affectant la fertilité ou la durée de gestation chez les bovins en valorisant des bases de données populationnelles." Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASB028.

Texto completo da fonte

Resumo:

La capacité des animaux à se reproduire est un point-clé de la gestion des troupeaux qui permet l'induction de la lactation et la naissance de veaux destinés à la vente ou au renouvellement. Du fait d'une sélection longtemps axée sur les caractères de production ces 80 dernières années, la fertilité des bovins a nettement diminué. L'objectif de ma thèse était d'exploiter les grandes bases de données françaises - constituées par l'enregistrement de 7 millions de naissances annuelles, des informations de suivi et de performances de ces animaux, complétées par 2 millions de génotypes sur puce à S

Estilos ABNT, Harvard, Vancouver, APA, etc.

Harvey, John Steven. "Metachromatic leukodystrophy : the role of non-pathogenic sequence variants in the causation of disease /." Title page, contents and abstract only, 1996. http://web4.library.adelaide.edu.au/theses/09PH/09phh341.pdf.

Texto completo da fonte

Estilos ABNT, Harvard, Vancouver, APA, etc.

Boudellioua, Imene. "Semantic Prioritization of Novel Causative Genomic Variants in Mendelian and Oligogenic Diseases." Diss., 2019. http://hdl.handle.net/10754/631708.

Texto completo da fonte

Resumo:

Recent advances in Next Generation Sequencing (NGS) technologies have facilitated the generation of massive amounts of genomic data which in turn is bringing the promise that personalized medicine will soon become widely available. As a result, there is an increasing pressure to develop computational tools to analyze and interpret genomic data. In this dissertation, we present a systematic approach for interrogating patients’ genomes to identify candidate causal genomic variants of Mendelian and oligogenic diseases. To achieve that, we leverage the use of biomedical data available from extensi

Estilos ABNT, Harvard, Vancouver, APA, etc.

Chen, I.-Hsuan, and 陳怡璇. "Causative Variants and Related Passives in Southern Min: A Case Study of Grammaticalization." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/26812038809635265208.

Texto completo da fonte

Resumo:

碩士 國立清華大學 語言學研究所 97 明清時代閩南語戲文富含使役與致使動詞，如：「chhoa7拽、kah4 甲、sai2 使、kio3 叫、khit4 乞和thoo3 度」。雖有類似的語法功能，且都出現於兼語式中，但每個動詞的語法化途徑不同，虛化程度不一，皆與其原本的語意緊密相關。藉由早期與現代閩南語的比較，可發現這些動詞的語意擴張將會影響兼語結構的解釋，主要歸納為兩條路線。其一為從動態使役到靜態致使，如「甲、叫」的語意泛化造成命令意涵減低，在特定的結構內主語可為非動物性的事件。「使」於早期閩南語為使役動詞，但現今與禁忌語衝突而不再沿用此功能。「拽」非使役動詞，但獨立發展出靜態致使用法。其二則為由雙賓動詞轉入被動用法，如給予動詞「乞、度」。「乞、度」在兼語結構已發展出容讓使役用法，若主語含有非出自意願允讓之意，易有容讓與被動的模糊解釋地帶，進而推衍出被動用法。本文進一步比較閩南語和官話致使動詞在語法化歷程上所反映的不同步現象，閩南語動態致使極少發展成成熟的靜態致使，但官話卻極為普遍。此外，官話的動態使役動詞可轉為被動用法，但閩南語的被動卻來自雙賓動詞。此六個使役與致使動詞皆作為兩個事件的連接點，因此當語意擴張時易造成兩個事件的關係重新詮釋，賦予兼語結構新的解讀。

Estilos ABNT, Harvard, Vancouver, APA, etc.

Chou, Yuh-Tsyr, and 周毓慈. "Identifying Causative Genetic Variants of Pheochromocytoma and Paraganglioma by Next-Generation Sequencing (NGS) in Taiwan." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/3fhsqv.

Texto completo da fonte

Resumo:

碩士 國立臺灣大學 分子醫學研究所 107 Pheochromocytoma (PCC) and paraganglioma (PGL) are neuroendocrine tumors arising from adrenal and extra-adrenal chromaffin cells respectively. They mostly present benign, yet show high morbidity and mortality due to the overproduction of catecholamine, which leads to hypertension, arrhythmia and even ischemia stroke. About one thirds of PCC/PGL are caused by germline genetic variants; therefore, here we established a NGS panel to detect possible disease-causing variants. After literature review, we aimed at the top 12 PCC/PGL causative genes (RET, VHL, NF1,FH,

Estilos ABNT, Harvard, Vancouver, APA, etc.

Xavier, Alexandre. "Identification of new causative genes in inherited colorectal cancer." Thesis, 2020. http://hdl.handle.net/1959.13/1417893.

Texto completo da fonte

Resumo:

Research Doctorate - Doctor of Philosophy (PhD) Colorectal cancer (CRC) remains a heavy burden for all national health systems. It is the third most frequently diagnosed cancer and the second leading cause of death in Australia and worldwide. Around 80% of CRC diagnosed each year are sporadic and somewhere between 7% and 8% have a clearly identified genetic predisposition (inherited CRC cancer; 5% for Lynch Syndrome (LS), 1% for Familial Adenomatous Polyposis (FAP) and 1-2% inclusive for various syndromes with very low incidences), with the remaining ~ 12%-13% being described as “familial”.

Estilos ABNT, Harvard, Vancouver, APA, etc.

Livros sobre o assunto "Causative variants"

Hans, Steiner, Daniels Whitney, Kelly Michael, and Stadler Christina. Etiology of Disruptive Behavior Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190265458.003.0004.

Texto completo da fonte

Resumo:

This chapter discusses the growing data base examining the biological, psychological, and social factors causing disruptive behavior disorders (DBDs). Some of the most intriguing findings are derived from the clinical and preclinical studies of psychopathy, the most extreme and pathological variant of antisocial and aggressive behavior. The existing data are best accommodated in a risk/resilience model informed by developmental psychopathology, rather that a reductionist biological model. The most likely model of causation of DBDs will be multifactorial rather than unifactorial. It is also lik

Estilos ABNT, Harvard, Vancouver, APA, etc.

Anjum, Rani Lill, and Stephen Mumford. What’s in a Correlation? Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198733669.003.0004.

Texto completo da fonte

Resumo:

It might be thought that there is no longer any need to attack regularities theories of causation. But they remain influential insofar as they persist in the notion of correlation. Correlation can mean at least five different things: regularity, co-variance, stable proportion, invariance, and constancy. Discovery of correlation is often assumed as the proper starting point of causal science. Correlation between A and B can itself be due to many things, including pure coincidence. Bradford Hill suggested a more sophisticated approach to correlation that aimed to isolate the true causes. Statist

Estilos ABNT, Harvard, Vancouver, APA, etc.

Petchey, Owen L., Andrew P. Beckerman, Natalie Cooper, and Dylan Z. Childs. Insights from Data with R. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780198849810.001.0001.

Texto completo da fonte

Resumo:

Knowledge of how to get useful information from data is essential in the life and environmental sciences. This book provides learners with knowledge, experience, and confidence about how to efficiently and reliably discover useful information from data. The content is developed from first- and second-year undergraduate-level courses taught by the authors. It charts the journey from question, to raw data, to clean and tidy data, to visualizations that provide insights. This journey is presented as a repeatable workflow fit for use with many types of question, study, and data. Readers discover h

Estilos ABNT, Harvard, Vancouver, APA, etc.

Capítulos de livros sobre o assunto "Causative variants"

Muise, Aleixo, and Hailiang Huang. "Sequencing and Mapping IBD Genes to Individual Causative Variants and Their Clinical Relevance." In Molecular Genetics of Inflammatory Bowel Disease. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-28703-0_6.

Texto completo da fonte

Estilos ABNT, Harvard, Vancouver, APA, etc.

Khimsuriya, Yashvant, Salil Vaniyawala, Babajan Banaganapalli, Muhammadh Khan, Ramu Elango, and Noor Ahmad Shaik. "Finding a Needle in a Haystack: Variant Effect Predictor (VEP) Prioritizes Disease Causative Variants from Millions of Neutral Ones." In Essentials of Bioinformatics, Volume II. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-18375-2_6.

Texto completo da fonte

Estilos ABNT, Harvard, Vancouver, APA, etc.

Krickel, Beate. "Different Types of Mechanistic Explanation and Their Ontological Implications." In History, Philosophy and Theory of the Life Sciences. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-46917-6_2.

Texto completo da fonte

Resumo:

AbstractOne assumption of the new mechanistic approach is that there are two kinds of mechanistic explanations: etiological and constitutive ones. While the former explain phenomena in terms of their preceding causes, the latter are supposed to refer to mechanisms that constitute phenomena. Based on arguments by Kaiser and Krickel (Br J Philos Sci 68(3):745–779, 2017) and Krickel (The mechanical world, vol. 13, Springer International Publishing. https://doi.org/10.1007/978-3-030-03629-4, 2018), I will show that this view is too narrow. Indeed, three different types of explanation are usually s

Estilos ABNT, Harvard, Vancouver, APA, etc.

Pereira, Sandra, Mariana Adrião, Mafalda Sampaio, et al. "Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant." In JIMD Reports. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_89.

Texto completo da fonte

Estilos ABNT, Harvard, Vancouver, APA, etc.

Noor Ul Ayan, Hafiza, and Muhammad Tariq. "Genome-Wide Association Studies (GWAS)." In Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics. BENTHAM SCIENCE PUBLISHERS, 2022. http://dx.doi.org/10.2174/9789815079517122010008.

Texto completo da fonte

Resumo:

Genome-wide association studies (GWAS) are designed to find associations between genomic variants and a phenotype, usually a complex multifactorial disease. The idea for association studies in a large cohort was floated after linkage analysis, which proved extremely successful in the identification of causative genes for rare disorders, but it did not come up to expectations in the case of common complex disorders where causative alleles are less frequently aggregated in families. Ever since their advent in 2005, GWAS have transformed gene identification ventures in complex disease genetics ov

Estilos ABNT, Harvard, Vancouver, APA, etc.

Snyder, Michael. "Complex Genetic Diseases." In Genomics and Personalized Medicine. Oxford University Press, 2016. http://dx.doi.org/10.1093/wentk/9780190234775.003.0006.

Texto completo da fonte

Resumo:

What is a complex genetic disease? Although great strides have been made to identify single gene variants that have a strong causative effect for a particular disease (e.g., CFTR mutations for cystic fibrosis and HEXA mutations for Tay-Sachs disease), the...

Estilos ABNT, Harvard, Vancouver, APA, etc.

Mefford, Heather C. "Rare Variants of Substantial Effect in Psychiatric Disorders of Childhood Onset." In Neurobiology of Mental Illness, edited by Joseph D. Buxbaum. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199934959.003.0071.

Texto completo da fonte

Resumo:

Psychiatric disorders in children, including autism, intellectual disability, attention deficit hyperactivity disorder, childhood-onset schizophrenia and bipolar disorder carry a significant financial and social burden for affected individuals and their families. It is clear that genetic factors play an important role in the etiology of many psychiatric illnesses. However, the inheritance pattern of each of these disorders is not straightforward, and therefore the identification of specific causative genes has been difficult. Recent technological advances facilitate genome-wide studies to iden

Estilos ABNT, Harvard, Vancouver, APA, etc.

Arnar, David O., and Hilma Holm. "Mechanisms of atrial fibrillation: genetics." In ESC CardioMed. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0497.

Texto completo da fonte

Resumo:

While atrial fibrillation (AF) is common and has serious consequences, a lot is yet unknown about the causative factors underlying this arrhythmia. The role of genetics in the development of AF has become more evident in the past decade. Family history is now a firmly established risk factor and many common and rare sequence variants linked to AF have been identified. Genome-wide association studies have identified common sequence variants that associate with AF, including variants on chromosomes 4q25, 16q22, and 1q22. Nevertheless, it has become apparent that despite these findings, a substan

Estilos ABNT, Harvard, Vancouver, APA, etc.

Acharya, Anu, Shibichakravarthy Kannan, Brajendra Kumar, Jasmine Khurana, Sushma Patil, and Geethanjali Tanikella. "Impact of Human Exome Sequencing on Clinical Research." In Healthcare Ethics and Training. IGI Global, 2017. http://dx.doi.org/10.4018/978-1-5225-2237-9.ch027.

Texto completo da fonte

Resumo:

Recent advances in human exome sequencing and the associated advantages have made it a technology of choice in various domains. The savings in time, cost and data storage compared with whole genome sequencing make this technology a potential game changer in clinical research settings. Recent advances in NGS have made it feasible to use exome sequencing in clinical research for identifying novel and rare variants that can lead to change in protein structure and function which may finally culminate into a totally different phenotype. If whole exome is not desired the same technology can be used

Estilos ABNT, Harvard, Vancouver, APA, etc.

Mackey, David A. "Epidemiology and World View of Genetic Eye Disease." In Genetic Diseases of the Eye, 3rd ed. Oxford University PressNew York, 2025. https://doi.org/10.1093/med/9780197659403.003.0001.

Texto completo da fonte

Resumo:

Abstract International collaboration, particularly through meta-analysis of genome-wide association studies (GWAS), has contributed to elucidating the genetic architecture underlying many eye diseases. This growing list of consortia includes the International AMD Genomics Consortium, the Consortium for Refractive Error and Myopia, and the International Glaucoma Genetics Consortium. These and others have identified numerous genes contributing to age-related macular degeneration, glaucoma (including primary open-angle glaucoma, primary angle-closure glaucoma, and exfoliation glaucoma), myopia, k

Estilos ABNT, Harvard, Vancouver, APA, etc.

Trabalhos de conferências sobre o assunto "Causative variants"

Coggins, Nicole, Luis Carvajal-Carmona, and David Segal. "Abstract 1117: Who's in the driver's seat? Identifying causative variants of colorectal cancer." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-1117.

Texto completo da fonte

Estilos ABNT, Harvard, Vancouver, APA, etc.

Santana, B. F., M. Riser, and B. Fragomeni. "297. Alternative SNP weighting for genomic prediction methods in the presence of causative variants." In World Congress on Genetics Applied to Livestock Production. Wageningen Academic Publishers, 2022. http://dx.doi.org/10.3920/978-90-8686-940-4_297.

Texto completo da fonte

Estilos ABNT, Harvard, Vancouver, APA, etc.

Yuan, C., L. Tang, T. Lopdell, et al. "497. Enrichment of causative variants in tissue-specific and shared ATAC-Seq peaks in cattle." In World Congress on Genetics Applied to Livestock Production. Wageningen Academic Publishers, 2022. http://dx.doi.org/10.3920/978-90-8686-940-4_497.

Texto completo da fonte

Estilos ABNT, Harvard, Vancouver, APA, etc.

Samoilova, Anna. "Effect of phages isolated from different sources against fire blight pathogen." In 5th International Scientific Conference on Microbial Biotechnology. Institute of Microbiology and Biotechnology, Republic of Moldova, 2022. http://dx.doi.org/10.52757/imb22.29.

Texto completo da fonte

Resumo:

Fire blight of rosaceous plants is one of the economically most important diseases of fruit trees caused by the bacterium Erwinia amylovora. Plants are extremely vulnerable for fire blight infection at the bloom stage. Blossom blight can lead to the great crop losses and even the plant death. Since chemical treatments are forbidden in time of blossoming, bacteriophages, highly specific bacterial viruses could be used for the disease control. Being the natural components of ecosystems, phages infect only bacteria sensitive to them, are non-toxic to plants, animals and humans and are adapted to

Estilos ABNT, Harvard, Vancouver, APA, etc.

Zhang, Yi, Mohith Manjunath, Shilu Zhang, Deborah Chasman, Sushmita Roy, and Jun S. Song. "Abstract 1220: Integrative genomic analysis discovers the causative regulatory mechanisms of a breast cancer-associated genetic variant." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-1220.

Texto completo da fonte

Estilos ABNT, Harvard, Vancouver, APA, etc.

Horváth, Imre, Yongzhe Li, Zoltán Rusák, Wilhelm Frederik Van Der Vegte, and Guangjun Zhang. "Dynamic Spatial Context Computation for Time-Varying Process Scenarios." In ASME 2016 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. American Society of Mechanical Engineers, 2016. http://dx.doi.org/10.1115/detc2016-59046.

Texto completo da fonte

Resumo:

There are many real life processes whose smart control requires processing context information. Though the issue of processing varying context information has been addressed in the literature, domain independent solutions that can support reasoning and decision making according to time-varying process scenarios in multiple application fields are scarce. This paper proposes a method for dynamic context computation concerning spatial and attributive information. Context is interpreted as a body of information dynamically created by a pattern of entities and relationships over a history of situat

Estilos ABNT, Harvard, Vancouver, APA, etc.

Kim, Jaehyun, and David Wallace. "A Statistical Approach to Causality Analysis in a Distributed Design Framework." In ASME 2004 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. ASMEDC, 2004. http://dx.doi.org/10.1115/detc2004-57694.

Texto completo da fonte

Resumo:

Numerous collaborative design tools have been developed to accelerate the product development, and recently environments for building distributed simulations have been proposed. For example, a simulation framework called DOME (Distributed Object-oriented Modeling and Evaluation) has been developed in MIT CADLAB. DOME is unique in its decentralized structure that allows heterogeneous simulations to be stitched together while allowing proprietary information an simulation models to remain secure with each participant. While such an approach offers many advantages, it also hides causality and sen

Estilos ABNT, Harvard, Vancouver, APA, etc.

Relatórios de organizações sobre o assunto "Causative variants"

Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu, and George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, 2015. http://dx.doi.org/10.32747/2015.7600017.bard.

Texto completo da fonte

Resumo:

The project’s general objectives were to determine specific polymorphisms at the DNA level responsible for observed quantitative trait loci (QTLs) and to estimate their effects, frequencies, and selection potential in the Holstein dairy cattle breed. The specific objectives were to (1) localize the causative polymorphisms to small chromosomal segments based on analysis of 52 U.S. Holstein bulls each with at least 100 sons with high-reliability genetic evaluations using the a posteriori granddaughter design; (2) sequence the complete genomes of at least 40 of those bulls to 20 coverage; (3) de

Estilos ABNT, Harvard, Vancouver, APA, etc.

Gelb, Jr., Jack, Yoram Weisman, Brian Ladman, and Rosie Meir. Identification of Avian Infectious Brochitis Virus Variant Serotypes and Subtypes by PCR Product Cycle Sequencing for the Rational Selection of Effective Vaccines. United States Department of Agriculture, 2003. http://dx.doi.org/10.32747/2003.7586470.bard.

Texto completo da fonte

Resumo:

Objectives 1. Determine the serotypic identities of 40 recent IBV isolates from commercial chickens raised in the USA and Israel. 2. Sequence all IBV field isolates using PCR product cycle sequencing and analyze their S 1 sequence to detennine their homology to other strains in the Genbank and EMBL databases. 3. Select vaccinal strains with the highest S 1 sequence homology to the field isolates and perform challenge of immunity studies in chickens in laboratory trials to detennine level of protection afforded by the vaccines. Background Infectious bronchitis (IB) is a common, economically imp

Estilos ABNT, Harvard, Vancouver, APA, etc.

Oferecemos descontos em todos os planos premium para autores cujas obras estão incluídas em seleções literárias temáticas. Contate-nos para obter um código promocional único!