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Human Genome Sequencing Center

Scholars27
Papers8
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Related Papers (8)
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A WHRN mutation impacts ocular morphology in rhesus macaques
err2026-07-20
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errAR Ana Ripolles-Garcia; AR Ana Raposo; SM Sophie M. Le; JS Jaeho Shim; SP Sangwan Park; KR Karolina Roszak; KH Kira H. Lin; MK Meher Khan; SL Sooyoung Lee; RT Rosie Thienpaitoon; LG Lillian Gao; JW Jun Wang; MF Marguerite F. Knipe; TS Timothy Stout; JR Jeffrey Rogers; RC Rui Chen; AM Ala Moshiri; SM Sara M. Thomasy
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Combining multiplexed functional data to improve variant classification
err2026-07-11
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errJeffrey D. Calhoun; Moez Dawood; Charlie F. Rowlands; Shawn Fayer; Elizabeth J. Radford; Abbye E. McEwen; Malvika Tejura; Clare Turnbull; Amanda B. Spurdle; Lea M. Starita; Sujatha Jagannathan
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Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations
err2026-04-01
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errRuizhi Vince Duan; Haowei Du; Shruti Pande; Ahmed K. Saad; Meryem M. Atik; Minal Jamsandekar; Karen J. Coveler; Zain Dardas; Shalini N. Jhangiani; Jennifer E. Posey; Richard A. Gibbs; James R. Lupski
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An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
err2025-12-31
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errHaowei Du; Ming Yin Lun; Lidiia Gagarina; Jesse D. Bengtsson; Christopher M. Grochowski; Michele G. Mehaffey; James Paul Hwang; Shalini N. Jhangiani; Sravya V. Bhamidipati; Donna M. Muzny; M. Cecilia Poli; Sebastian Ochoa; Ivan K. Chinn; Anna Lindstrand; Jennifer E. Posey; Richard A. Gibbs; Pengfei Liu; James R. Lupski; Claudia M. B. Carvalho
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Association of genetic scores related to insulin resistance with neurological outcomes in ancestrally diverse cohorts from the Trans-Omics for Precision Medicine (TOPMed) program
err2025-09-24
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errChloé Sarnowski; Yixin Zhang; Farah Ammous; Lincoln M. P. Shade; Daniel DiCorpo; Xueqiu Jian; Donna K. Arnett; Thomas R. Austin; Alexa Beiser; Joshua C. Bis; John Blangero; Eric Boerwinkle; Jan Bressler; Joanne E. Curran; Charles S. DeCarli; Harsha Doddapaneni; Josée Dupuis; David W. Fardo; Jose C. Florez; Stacey Gabriel; Richard A. Gibbs; David C. Glahn; Namrata Gupta; Hector M. González; Kevin A. González; Konstantinos Hatzikotoulas; Kathleen M. Hayden; Susan R. Heckbert; Bertha Hidalgo; Alicia Huerta-Chagoya; Timothy M. Hughes; Sharon L. R. Kardia; Charles L. Kooperberg; Lenore J. Launer; W. T. Longstreth; Ravi Mandla; Rasika A. Mathias; Andrew P. Morris; Thomas H. Mosley; Ilya M. Nasrallah; Paul Nyquist; Bruce M. Psaty; Qibin Qi; Laura M. Raffield; Nigel W. Rayner; Alexander P. Reiner; Claudia L. Satizabal; Elizabeth Selvin; Magdalena D. R. Sevilla-Gonzalez; Albert V. Smith; Jennifer A. Smith; Kirk Smith; Beverly M. Snively; Lorraine Southam; Tamar Sofer; Ken Suzuki; Henry J. Taylor; Miriam S. Udler; Karine A. Viaud-Martinez; Sylvia Wassertheil-Smoller; Alexis C. Wood; Lisa R. Yanek; Xianyong Yin; Alisa K. Manning; Jerome I. Rotter; Stephen S. Rich; James B. Meigs; Myriam Fornage; Sudha Seshadri; Alanna C. Morrison
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Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair
err2025-08-08
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errJennifer H. McDaniel; Vaidehi Patel; Nathan D. Olson; Hua-Jun He; Zhiyong He; Kenneth D. Cole; Alexander A. Gooden; Anthony Schmitt; Kristin Sikkink; Fritz J. Sedlazeck; Harsha Doddapaneni; Shalini N. Jhangiani; Donna M. Muzny; Marie-Claude Gingras; Heer Mehta; Sairam Behera; Luis F. Paulin; Alex R. Hastie; Hung-Chun Yu; Victor Weigman; Alison Rojas; Katie Kennedy; Jamie Remington; Isai Salas-González; Mitch Sudkamp; Kelly Wiseman; Bryan R. Lajoie; Shawn Levy; Miten Jain; Stuart Akeson; Giuseppe Narzisi; Zoe Steinsnyder; Catherine Reeves; Jennifer Shelton; Sarah B. Kingan; Christine Lambert; Primo Baybayan; Aaron M. Wenger; Ian J. McLaughlin; Aaron Adamson; Christopher Kingsley; Melanie Wescott; Young Kim; Benedict Paten; Jimin Park; Ivo Violich; Karen H. Miga; Joshua Gardner; Brandy McNulty; Gail L. Rosen; Rajiv McCoy; Francesco Brundu; Erfan Sayyari; Konrad Scheffler; Sean Truong; Severine Catreux; Lesley Chapman Hannah; Doron Lipson; Hila Benjamin; Nika Iremadze; Ilya Soifer; Gat Krieger; Stephen Eacker; Mary Wood; Erin Cross; Greg Husar; Stephen Gross; Michael Vernich; Mikhail Kolmogorov; Tanveer Ahmad; Ayse G. Keskus; Asher Bryant; Francoise Thibaud-Nissen; Jonathan Trow; Jacqueline Proszynski; Jeremy Wain Hirschberg; Krista Ryon; Christopher E. Mason; Mital S. Bhakta; J. Zachary Sanborn; Elizabeth M. Munding; Justin Wagner; Chunlin Xiao; Andrew S. Liss; Justin M. Zook
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The GENESTAR manual for biospecimen collection biobanking and omics data generation from commercial space missions
err2025-05-14
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errAparna Krishnavajhala; Marie-Claude Gingras; Emmanuel Urquieta; Hsu Chao; Dilrukshi Bandaranaike; Yi Chen; Sravya Bhamidipati; Viktoriya Korchina; S. Michelle Griffin; Michal M. Masternak; Hannah Moreno; Javid Mohammed; Mullai Murugan; Jennifer E. Posey; Jimmy H. Wu; Donna Muzny; Richard A. Gibbs; Harsha Doddapaneni
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