Keeping up with the genomes: scaling genomic variant interpretation by Heidi L. Rehm, Douglas M. Fowler

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Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar by Steven M. Harrison, Heidi L. Rehm

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Genetic variation in the Middle East—an opportunity to advance the human genetics field by Ahmad N. Abou Tayoun, Heidi L. Rehm

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TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling by In Seok Moon, In Seok Moon, Andrew R. Grant, Andrew R. Grant, Varun Sagi, Varun Sagi, Heidi L. Rehm, Heidi L. Rehm, Konstantina M. Stankovic, Konstantina M. Stankovic

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Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes by Eleanor G. Seaby, Eleanor G. Seaby, Eleanor G. Seaby, Eleanor G. Seaby, Heidi L. Rehm, Heidi L. Rehm, Anne O’Donnell-Luria, Anne O’Donnell-Luria, Anne O’Donnell-Luria, Anne O’Donnell-Luria

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A Panel-Agnostic Strategy ‘HiPPo’ Improves Diagnostic Efficiency in the UK Genomic Medicine Service by Eleanor G. Seaby, N. Simon Thomas, David Hunt, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria, Sarah Ennis

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A pooled electronic consultation program to improve access to genetics specialists by Emma K. Folkerts, Renée C. Pelletier, Daniel C. Chung, Susan A. Goldstein, Douglas S. Micalizzi, Kristen M. Shannon, David A. Sweetser, Eugene K. Wong, Heidi L. Rehm, Leland E. Hull

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International federation of genomic medicine databases using GA4GH standards by Adrian Thorogood, Heidi L. Rehm, Peter Goodhand, Angela J.H. Page, Yann Joly, Michael Baudis, Jordi Rambla, Arcadi Navarro, Tommi H. Nyronen, Mikael Linden, Edward S. Dove, Marc Fiume, Michael Brudno, Melissa S. Cline, Ewan Birney

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Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action by Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative

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Consent Codes: Upholding Standard Data Use Conditions. by Stephanie O M Dyke, Anthony A Philippakis, Jordi Rambla De Argila, Dina N Paltoo, Erin S Luetkemeier, Bartha M Knoppers, Anthony J Brookes, J Dylan Spalding, Mark Thompson, Marco Roos, Kym M Boycott, Michael Brudno, Matthew Hurles, Heidi L Rehm, Andreas Matern, Marc Fiume, Stephen T Sherry

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Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches by Verena Klämbt, Youying Mao, Ronen Schneider, Florian Buerger, Hanan Shamseldin, Ana C. Onuchic-Whitford, Konstantin Deutsch, Thomas M. Kitzler, Makiko Nakayama, Amar J. Majmundar, Nina Mann, Hannah Hugo, Eugen Widmeier, Weizhen Tan, Heidi L. Rehm, Shrikant Mane, Richard P. Lifton, Fowzan S. Alkuraya, Shirlee Shril, Friedhelm Hildebrandt

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Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program by Eric Venner, Donna Muzny, Joshua D. Smith, Kimberly Walker, Cynthia L. Neben, Christina M. Lockwood, Phillip E. Empey, Ginger A. Metcalf, Chris Kachulis, The All of Us Research Program Regulatory Working Group, Sana Mian, Anjene Musick, Heidi L. Rehm, Steven Harrison, Stacey Gabriel, Richard A. Gibbs, Deborah Nickerson, Alicia Y. Zhou, Kimberly Doheny, Bradley Ozenberger, Scott E. Topper, Niall J. Lennon

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Best practices for the interpretation and reporting of clinical whole genome sequencing by Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative*

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The BabySeq project: implementing genomic sequencing in newborns by Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, The BabySeq Project Team, Robert C. Green, Alan H. Beggs

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The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification by Alex H. Wagner, Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel L. Cameron, Melissa Cline, Malachi Griffith, Obi L. Griffith, Sarah E. Hunt, David Kreda, Jennifer M. Lee, Stephanie Li, Javier Lopez, Eric Moyer, Tristan Nelson, Ronak Y. Patel, Kevin Riehle, Peter N. Robinson, Shawn Rynearson, Helen Schuilenburg, Kirill Tsukanov, Brian Walsh, Melissa Konopko, Heidi L. Rehm, Andrew D. Yates, Robert R. Freimuth, Reece K. Hart

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REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats by Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle

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Genetic sex validation for sample tracking in next-generation sequencing clinical testing by Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V. Harden, David Murdock, Alyssa Macbeth, Steven M. Harrison, Niall Lennon, Christie Kovar, Adithya Balasubramanian, Lan Zhang, Gauthami Chandanavelli, Divya Pasham, Robb Rowley, Ken Wiley, Maureen E. Smith, Adam Gordon, Gail P. Jarvik, Patrick Sleiman, Melissa A. Kelly, Harris T. Bland, Mullai Murugan, Eric Venner, Eric Boerwinkle, the eMERGE III consortium, Cynthia Prows, Lisa Mahanta, Heidi L. Rehm, Richard A. Gibbs, Donna M. Muzny

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Recommendations for clinical interpretation of variants found in non-coding regions of the genome by Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin

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Creating a data resource: what will it take to build a medical information commons? by Patricia A. Deverka, Mary A. Majumder, Angela G. Villanueva, Margaret Anderson, Annette C. Bakker, Jessica Bardill, Eric Boerwinkle, Tania Bubela, Barbara J. Evans, Nanibaa’ A. Garrison, Richard A. Gibbs, Robert Gentleman, David Glazer, Melissa M. Goldstein, Hank Greely, Crane Harris, Bartha M. Knoppers, Barbara A. Koenig, Isaac S. Kohane, Salvatore La Rosa, John Mattison, Christopher J. O’Donnell, Arti K. Rai, Heidi L. Rehm, Laura L. Rodriguez, Robert Shelton, Tania Simoncelli, Sharon F. Terry, Michael S. Watson, John Wilbanks, Robert Cook-Deegan, Amy L. McGuire

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Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. by Frederick E Dewey, Rong Chen, Sergio P Cordero, Kelly E Ormond, Colleen Caleshu, Konrad J Karczewski, Michelle Whirl-Carrillo, Matthew T Wheeler, Joel T Dudley, Jake K Byrnes, Omar E Cornejo, Joshua W Knowles, Mark Woon, Katrin Sangkuhl, Li Gong, Caroline F Thorn, Joan M Hebert, Emidio Capriotti, Sean P David, Aleksandra Pavlovic, Anne West, Joseph V Thakuria, Madeleine P Ball, Alexander W Zaranek, Heidi L Rehm, George M Church, John S West, Carlos D Bustamante, Michael Snyder, Russ B Altman, Teri E Klein, Atul J Butte, Euan A Ashley

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