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Literatura académica sobre el tema "Multi-gene panel"

Autor: Grafiati

Publicado: 10 de marzo de 2023

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Artículos de revistas sobre el tema "Multi-gene panel"

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Thakral, G., K. Vierkoetter, S. Namiki, S. Lawicki, X. Fernandez, K. Ige, W. Kawahara y C. Lum. "AML multi-gene panel testing: A review and comparison of two gene panels". Pathology - Research and Practice 212, n.º 5 (mayo de 2016): 372–80. http://dx.doi.org/10.1016/j.prp.2016.02.004.

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de Biase, Dario, Giorgia Acquaviva, Michela Visani, Viviana Sanza, Chiara M. Argento, Antonio De Leo, Thais Maloberti, Annalisa Pession y Giovanni Tallini. "Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel". Diagnostics 10, n.º 4 (23 de abril de 2020): 250. http://dx.doi.org/10.3390/diagnostics10040250.

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Next generation sequencing (NGS) allows parallel sequencing of multiple genes at a very high depth of coverage. The need to analyze a variety of targets for diagnostic/prognostic/predictive purposes requires multi-gene characterization. Multi-gene panels are becoming standard approaches for the molecular analysis of solid lesions. We report a custom-designed 128 multi-gene panel engineered to cover the relevant targets in 22 oncogene/oncosuppressor genes for the analysis of the solid tumors most frequently subjected to routine genotyping. A total of 1695 solid tumors were analyzed for panel validation. The analytical sensitivity is 5%. Analytical validation: (i) Accuracy: sequencing results obtained using the multi-gene panel are concordant using two different NGS platforms and single-gene approach sequencing (100% of 83 cases); (ii) Precision: consistent results are obtained in the samples analyzed twice with the same platform (100% of 20 cases). Clinical validation: the frequency of mutations identified in different tumor types is consistent with the published literature. This custom-designed multi-gene panel allows to analyze with high sensitivity and throughput 22 oncogenes/oncosuppressor genes involved in diagnostic/prognostic/predictive characterization of central nervous system tumors, non-small-cell lung carcinomas, colorectal carcinomas, thyroid nodules, pancreatic lesions, melanoma, oral squamous carcinomas and gastrointestinal stromal tumors.

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HAYASHI, SAORI, MAKOTO KUBO, SAWAKO MATSUZAKI, MASAYA KAI, TAKAFUMI MORISAKI, MAI YAMADA, KAZUHISA KANESHIRO et al. "Significance of the Multi-gene Panel myRisk in Japan". Anticancer Research 42, n.º 8 (26 de julio de 2022): 4097–102. http://dx.doi.org/10.21873/anticanres.15907.

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Hermel, David J., Wendy C. McKinnon, Marie E. Wood y Marc S. Greenblatt. "Placing negative multi-gene panel results into clinical context". Familial Cancer 16, n.º 4 (28 de abril de 2017): 595. http://dx.doi.org/10.1007/s10689-017-9974-0.

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Turriff, Amy E., Catherine A. Cukras, Brian P. Brooks y Laryssa A. Huryn. "Considerations in multi-gene panel testing in pediatric ophthalmology". Journal of American Association for Pediatric Ophthalmology and Strabismus 23, n.º 3 (junio de 2019): 163–65. http://dx.doi.org/10.1016/j.jaapos.2019.01.008.

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Khan, Arif O. "Considerations in multi-gene panel testing in pediatric ophthalmology". Journal of American Association for Pediatric Ophthalmology and Strabismus 24, n.º 1 (febrero de 2020): 57–58. http://dx.doi.org/10.1016/j.jaapos.2019.07.003.

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Christy, Joshua, Emad Kandah, Kavitha Kesari y Trevor Singh. "Multi-gene mutation metastatic castrate-resistant prostate cancer". BMJ Case Reports 14, n.º 7 (julio de 2021): e243124. http://dx.doi.org/10.1136/bcr-2021-243124.

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Gene panel sequencing of metastatic castrate-resistant prostate cancer (mCRPC) can assist in identifying appropriate targeted therapies. Although some studies have reported single DNA mutations, this is the first case of mCRPC with five different DNA mutations based on gene panel analysis. The patient, a 75-year-old man, initially presented with haematuria. Laboratory investigation revealed elevated prostate-specific antigen levels, and CT showed an enlarged prostate gland with metastatic lymph nodes. A 12-core biopsy revealed adenocarcinoma of the prostate. Gene panel sequencing demonstrated five different DNA mutations associated with sensitivities to olaparib and pembrolizumab. Treatment failure after hormonal therapy with leuprorelin and bicalutamide resulted in the initiation of chemotherapy with docetaxel. Over the past decade, development of genome sequencing analysis may guide us with more precise targeted therapy specific to mCRPC early on, especially with poly (ADP-ribose) polymerase inhibitors may show survival benefits.

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Senthilraja, Manickavasagam, Aaron Chapla, Felix K. Jebasingh, Dukhabhandhu Naik, Thomas V. Paul y Nihal Thomas. "Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome". Case Reports in Genetics 2019 (27 de octubre de 2019): 1–3. http://dx.doi.org/10.1155/2019/4218514.

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Kallmann syndrome (KS)/Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by hypogonadotropic hypogonadism and anosmia or hyposmia due to the abnormal migration of olfactory and gonadotropin releasing hormone producing neurons. Multiple genes have been implicated in KS/IHH. Sequential testing of these genes utilising Sanger sequencing is time consuming and not cost effective. The introduction of parallel multigene panel sequencing of small gene panels for the identification of causative gene variants has been shown to be a robust tool in the clinical setting. Utilizing multiplex PCR for the four gene KS/IHH panel followed by NGS, we describe herewith two cases of hypogonadotropic hypogonadism with a Prokineticin receptor 2 (PROKR2) gene and KAL1 gene mutation. The subject with a PROKR2 mutation had a normal perception of smell and normal olfactory bulbs on imaging. The subject with a KAL1 gene mutation had anosmia and a hypoplastic olfactory bulb.

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Schroeder, Christopher, Ulrike Faust, Marc Sturm, Karl Hackmann, Kathrin Grundmann, Florian Harmuth, Kristin Bosse et al. "HBOC multi-gene panel testing: comparison of two sequencing centers". Breast Cancer Research and Treatment 152, n.º 1 (29 de mayo de 2015): 129–36. http://dx.doi.org/10.1007/s10549-015-3429-9.

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Ring, Kari Lassen, Amanda S. Bruegl, Brian Allen, Eric P. Elkin, Nanda Singh, Anne-Renee Hartman y Russell Broaddus. "Multi-gene panel testing in an unselected endometrial cancer cohort." Journal of Clinical Oncology 33, n.º 15_suppl (20 de mayo de 2015): 1533. http://dx.doi.org/10.1200/jco.2015.33.15_suppl.1533.

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Más fuentes

Tesis sobre el tema "Multi-gene panel"

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Chadwell, Sarah E. B. S. "Factors Influencing Clinical Follow-up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Negative or Uncertain BRCA1 and BRCA2 Testing". University of Cincinnati / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1491317215551797.

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Ernst, Corinna [Verfasser], Andreas [Gutachter] Beyer y Michael [Gutachter] Nothnagel. "Computational methods for improved cancer risk prediction based on multi-gene panel analysis in a routine diagnostic setting / Corinna Ernst ; Gutachter: Andreas Beyer, Michael Nothnagel". Köln : Universitäts- und Stadtbibliothek Köln, 2021. http://d-nb.info/1238222838/34.

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Popkin, Ronna. "Variants of Significance? The Production and Management of Genetic Risk for Breast and Ovarian Cancer in the Era of Multi-Gene Panel Testing". Thesis, 2019. https://doi.org/10.7916/d8-ccx3-9w86.

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This dissertation examines the production and management of genetic risk for breast and ovarian cancer in the United States in the new era of multi-gene panel testing. Drawing on three years of ethnographic fieldwork and in-depth interviews with genetics health professionals and women with mutations, this project is the first social science study to examine how breast and ovarian cancer genetic risk is constructed and managed among women with variants of uncertain significance or moderate-risk mutations. Moving beyond an individual-level focus on women’s risk management decisions, this project instead explores how the structures, practices, and organization of genetic medicine constrain and enable those decisions. There are four key findings from this study. First, the adoption of panel testing has shifted the boundaries of risk, disease, and patienthood and contributed to a spectrum of medicalization of breast and ovarian cancer risk. Women with high-risk breast and ovarian cancer mutations are now typically viewed and treated like full patients with a "disease," while women with moderate-risk mutations occupy a liminal space of qualified patienthood. Second, the structures and organization of genetic medicine in the United States point women with breast and ovarian cancer mutations toward risk-reducing mastectomy and breast reconstruction and encourage choosing those surgical responses over breast surveillance or staying flat. Mastectomy has become the standard “treatment” for the “disease” of genetic risk for breast cancer, regardless of whether women have high- or moderate-risk mutations and despite more conservative recommendations in clinical guidelines. Third, the structures of genetic medicine and the contemporary gender order in the United States are mutually constituted and co-produced. Breast reconstruction and gynecologic surgery practices both emerge from and reinforce gendered social and cultural norms that prioritize women's appearance and their reproductive capacity over their embodied experiences and daily quality of life. Finally, the discourses and practices of genetic medicine leave many women un- or under-prepared for the duration and severity of the side effects and consequences associated with breast reconstruction and risk-reducing salpingo-oophorectomy. By closely examining the social and structural dimensions of how cancer genetic risk is produced and managed in the United States, this project illuminates how clinical practices that magnify and focus on reducing certain risks simultaneously obscure and generate exposure to others.

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Galatolo, Daniele. "An integrated, next-generation approach to identify new genes and new pathways in hereditary ataxias". Doctoral thesis, 2020. http://hdl.handle.net/2158/1188709.

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The Hereditary ataxias (HAs) are a group of heterogenous neurological disorders associated with multiple genetic etiologies and encompassing a wide spectrum of phenotypes, where ataxia is the prominent feature. HAs are characterized by degeneration of Purkinje cell and/or spinocerebellar connections, often associated with defects in additional brain structures, and all patterns of inheritance may occur. Similar to other fields of medical genetics, Next Generation Sequencing (NGS) has entered the HA scenario widening our genetic and clinical knowledge of this condition, but routine NGS applications still miss genetic diagnosis in about two third of patients. In this doctoral study, we applied multi-gene panels to define the molecular basis in 259 patients with a clinical diagnosis of HA and negative to tests for pathological expansion in SCA1, 2, 3, 6, 7, 8, 12, 17 and FXN. We found a positive molecular diagnosis in 25% of patients, whereas a similar number of patients had an uncertain diagnosis due to the presence of either variants of uncertain significance or lack of biological samples to determine segregation among family members. Hence despite a higher positive diagnostic rate compared to similar studies described in literature, a half of patients lacked any indication of the genetic cause of their disease. Using exome sequencing as a second-tier approach in some families, refractory to multi-gene panel analysis, did not significantly improved our diagnostic yield. On the other hand, NGS analysis in our cohort indicated that familial cases were more easily diagnosed rather than sporadic cases, and also that combining massive sequencing with detailed clinical information and family studies increases the likelihood to reach a molecular diagnosis. Among positive patients, we could expand clinical and allelic information in a subgroup of genes offering original description of new mutations and corroborating genetic findings with functional investigations that took advantage of different in vitro or in vivo platforms. In particular, through functional studies in SPG7 knock-down models of Drosophila melanogaster, we remarked that SPG7, whose mutations cause spastic paraplegia type 7, has a critical role in neurons more than in skeletal muscle. The high frequency of p.Ala510Val mutation in SPG7 observed in our cohort as well in similar studies performed elsewhere moved us to develop a humanized knock-in fruit fly model harboring that specific mutation and prepare preliminary characterizations. Similar studies in fruit fly were performed silencing AFG3L2, the gene causing SPAX5 in a child in association with an unusual, relatively milder phenotype. Furthermore, combination of skin fibroblasts and Saccharomyces cerevisiae as models was employed in the genetic characterization of new mutations in a novel recessive HARS-related phenotype whereas primary human cells, yeast and Danio rerio models were used to functionally characterize new HA-related mutations in COQ4. Finally, we could expand the clinical presentation of rare causes of HAs describing new dominant mutations in STUB1 and biallelic variants in RFN216, COQ8A, and ATP13A2. Altogether, studies performed during this doctoral work further underlined the usefulness of NGS in HAs and highlighted how NGS technologies rely on the integrated use of family and clinical studies and different in vitro/in vivo platforms to substantiate molecular findings. The latter platform will be also a tool for future investigations to dissect pathogenesis and to improve therapies.

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Libros sobre el tema "Multi-gene panel"

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Popkin, Ronna. Variants of Significance? The Production and Management of Genetic Risk for Breast and Ovarian Cancer in the Era of Multi-Gene Panel Testing. [New York, N.Y.?]: [publisher not identified], 2019.

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Capítulos de libros sobre el tema "Multi-gene panel"

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Fountzilas, Christos y Virginia G. Kaklamani. "Multi-gene Panel Testing in Breast Cancer Management". En Optimizing Breast Cancer Management, 121–40. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-70197-4_8.

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Ernst, Corinna, Rita K. Schmutzler y Eric Hahnen. "Generalized Additive Models for the Detection of Copy Number Variations (CNVs) Using Multi-gene Panel Sequencing Data". En Studies in Classification, Data Analysis, and Knowledge Organization, 199–213. Singapore: Springer Singapore, 2020. http://dx.doi.org/10.1007/978-981-15-3311-2_16.

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Actas de conferencias sobre el tema "Multi-gene panel"

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Yadav, S., R. Ladkany, J. Fulbright, H. Dreyfuss, A. Reeves, S. Campian, V. Thomas y D. Zakalik. "Abstract P2-09-06: Multi-gene panel testing for hereditary cancer risk". En Abstracts: Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium; December 8-12, 2015; San Antonio, TX. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.sabcs15-p2-09-06.

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Ross, JL, AH Woodson, AM Gutierrez Barrera, JK Litton y B. Arun. "Abstract PD1-10: Multi-gene panel testing results in patients with multiple breast cancer primaries". En Abstracts: 2017 San Antonio Breast Cancer Symposium; December 5-9, 2017; San Antonio, Texas. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.sabcs17-pd1-10.

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Chao, Elizabeth C., Mary Pritzlaff, Summerour Pia, Rachel McFarland, Shuwei Li, Jill Dolinsky, David Goldgar, Hermela Shimelis, Fergus Couch y LaDuca Holly. "Abstract 3406: Hereditary risks of male breast cancer in a multi-gene panel testing cohort". En Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-3406.

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Zhou, AY, J. van den Akker, A. Zimmer y W. McFadden. "Abstract P4-06-06: Frequency of mutations in multi-gene panel testing of 3,011 breast cancer patients". En Abstracts: 2017 San Antonio Breast Cancer Symposium; December 5-9, 2017; San Antonio, Texas. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.sabcs17-p4-06-06.

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Kapoor, NS, LD Curcio, M. Patrick, J. Swisher, JD West y K. Banks. "Abstract PD7-05: Multi-gene panel testing and the cancers identified in patients at risk for hereditary breast cancer". En Abstracts: Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium; December 8-12, 2015; San Antonio, TX. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.sabcs15-pd7-05.

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Ma, Ming, Jeom Kee Paik y Tobin McNatt. "Hierarchically Decomposed Multi-Level Optimization for Ship Structural Design". En ASME 2016 35th International Conference on Ocean, Offshore and Arctic Engineering. American Society of Mechanical Engineers, 2016. http://dx.doi.org/10.1115/omae2016-54452.

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As the demand for modern ships grows to meet greater reliability, fuel efficiency, and economy, the interest in reducing structural weight while enhancing safety has also increased. Ship structural optimization is usually a mixed discrete-continuous design problem constrained by buckling and material strength, and involves the optimization of a large number of variables such as (continuous/discrete) plate thickness, scantlings of stiffeners and frames, and the (discrete) number of stiffeners and frames. Further complication arises when the structure is constrained by buckling and strength under compression and subject to practical design rules. Although 3D finite element analysis are widely used for full ship structure stresses and limit state analysis, their application for structural optimization is still prohibitive due to the computational cost. In this paper a multi-level heuristic based multi-objective optimization is formulated and used to optimize a large and complex thin-wall structure on the basis of weight, and safety. The optimization procedure has three levels: (1) For each stiffened panel, a heuristic based multi-objective optimization method is used to minimize its weight and maximize its safety, and a Pareto front is obtained. The ALPS/ULSAP ultimate limit state criteria, which is parametric formulated, mesh free, computational efficient, and is able to predict six different failure modes for a stiffened panel, are used to formulate the safety objective function. (2) Use the Pareto front of each panel as a gene pool to optimize the hull girder global properties, such as hull girder cross section area moment of inertia and vertical center of gravity (VCG). (3) Minimize the difference between the design variables from the local optimization and the global optimization by iterating 3D finite element analysis of the full ship. An example of optimizing the longitudinal structures of a full cargo hold of a 200,000 ton oil tanker is presented. The numerical results show that the proposed method is very useful to perform ultimate strength based ship structural optimization with multi-objectives, namely minimization of the structural weight and maximization of structural safety.

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Crawford, BB, SB Adams, T. Sittler, J. Van den Akker, SB Chan, O. Leitner, LN Ryan, E. Gil y LJ Van 't Veer. "Abstract P3-08-02: Multi-gene panel testing for hereditary cancer predisposition in unsolved high risk breast and ovarian cancer patients". En Abstracts: 2016 San Antonio Breast Cancer Symposium; December 6-10, 2016; San Antonio, Texas. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.sabcs16-p3-08-02.

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Nusbaum, Rachel, Lisa Susswein, Kathleen Hruska, Melanie Hussong, Windy Berkofsky-Fessler, Mingjuan Liao, Erica Rinella et al. "Abstract P4-12-05: Individuals with more than one pathogenic variant: Rationale for considering multi-gene panel testing for cancer susceptibility". En Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium; December 9-13, 2014; San Antonio, TX. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.sabcs14-p4-12-05.

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Whitaker, Kristen, Nicole Ventriglia, Karthik Devarajan y Elias Obeid. "Abstract PS8-16: Differences in the benefit of multi-gene panel (MGP) genetic testing between African American and white women with invasive breast cancer". En Abstracts: 2020 San Antonio Breast Cancer Virtual Symposium; December 8-11, 2020; San Antonio, Texas. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.sabcs20-ps8-16.

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Punie, Kevin, Griet Hoste, Griet Van Buggenhout, Ellen Denayer, Hilde Brems, Hilde Peeters, Ann Smeets et al. "Abstract P6-08-03: Germline mutational landscape in 5422 individuals at risk for hereditary breast and ovarian cancer who underwent multi-gene panel testing". En Abstracts: 2019 San Antonio Breast Cancer Symposium; December 10-14, 2019; San Antonio, Texas. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1538-7445.sabcs19-p6-08-03.

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Informes sobre el tema "Multi-gene panel"

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Gur, Amit, Edward Buckler, Joseph Burger, Yaakov Tadmor y Iftach Klapp. Characterization of genetic variation and yield heterosis in Cucumis melo. United States Department of Agriculture, enero de 2016. http://dx.doi.org/10.32747/2016.7600047.bard.

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Project objectives: 1) Characterization of variation for yield heterosis in melon using Half-Diallele (HDA) design. 2) Development and implementation of image-based yield phenotyping in melon. 3) Characterization of genetic, epigenetic and transcriptional variation across 25 founder lines and selected hybrids. The epigentic part of this objective was modified during the course of the project: instead of characterization of chromatin structure in a single melon line through genome-wide mapping of nucleosomes using MNase-seq approach, we took advantage of rapid advancements in single-molecule sequencing and shifted the focus to Nanoporelong-read sequencing of all 25 founder lines. This analysis provides invaluable information on genome-wide structural variation across our diversity 4) Integrated analyses and development of prediction models Agricultural heterosis relates to hybrids that outperform their inbred parents for yield. First generation (F1) hybrids are produced in many crop species and it is estimated that heterosis increases yield by 15-30% globally. Melon (Cucumismelo) is an economically important species of The Cucurbitaceae family and is among the most important fleshy fruits for fresh consumption Worldwide. The major goal of this project was to explore the patterns and magnitude of yield heterosis in melon and link it to whole genome sequence variation. A core subset of 25 diverse lines was selected from the Newe-Yaar melon diversity panel for whole-genome re-sequencing (WGS) and test-crosses, to produce structured half-diallele design of 300 F1 hybrids (MelHDA25). Yield variation was measured in replicated yield trials at the whole-plant and at the rootstock levels (through a common-scion grafted experiments), across the F1s and parental lines. As part of this project we also developed an algorithmic pipeline for detection and yield estimation of melons from aerial-images, towards future implementation of such high throughput, cost-effective method for remote yield evaluation in open-field melons. We found extensive, highly heritable root-derived yield variation across the diallele population that was characterized by prominent best-parent heterosis (BPH), where hybrids rootstocks outperformed their parents by 38% and 56 % under optimal irrigation and drought- stress, respectively. Through integration of the genotypic data (~4,000,000 SNPs) and yield analyses we show that root-derived hybrids yield is independent of parental genetic distance. However, we mapped novel root-derived yield QTLs through genome-wide association (GWA) analysis and a multi-QTLs model explained more than 45% of the hybrids yield variation, providing a potential route for marker-assisted hybrid rootstock breeding. Four selected hybrid rootstocks are further studied under multiple scion varieties and their validated positive effect on yield performance is now leading to ongoing evaluation of their commercial potential. On the genomic level, this project resulted in 3 layers of data: 1) whole-genome short-read Illumina sequencing (30X) of the 25 founder lines provided us with 25 genome alignments and high-density melon HapMap that is already shown to be an effective resource for QTL annotation and candidate gene analysis in melon. 2) fast advancements in long-read single-molecule sequencing allowed us to shift focus towards this technology and generate ~50X Nanoporesequencing of the 25 founders which in combination with the short-read data now enable de novo assembly of the 25 genomes that will soon lead to construction of the first melon pan-genome. 3) Transcriptomic (3' RNA-Seq) analysis of several selected hybrids and their parents provide preliminary information on differentially expressed genes that can be further used to explain the root-derived yield variation. Taken together, this project expanded our view on yield heterosis in melon with novel specific insights on root-derived yield heterosis. To our knowledge, thus far this is the largest systematic genetic analysis of rootstock effects on yield heterosis in cucurbits or any other crop plant, and our results are now translated into potential breeding applications. The genomic resources that were developed as part of this project are putting melon in the forefront of genomic research and will continue to be useful tool for the cucurbits community in years to come.

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