Whole-Genome Sequencing

Impacts of genomics on the health and social costs of intellectual disability
Brett Doble, Deborah Schofield, Carey-Anne Evans, Tudor Groza, John S Mattick, Mike Field, Tony Roscioli

Journal of Medical Genetics Jul 2020, 57 (7) 479-486; DOI: 10.1136/jmedgenet-2019-106445
Impact of DNA source on genetic variant detection from human whole-genome sequencing data
Brett Trost, Susan Walker, Syed A Haider, Wilson W L Sung, Sergio Pereira, Charly L Phillips, Edward J Higginbotham, Lisa J Strug, Charlotte Nguyen, Akshaya Raajkumar, Michael J Szego, Christian R Marshall, Stephen W Scherer

Journal of Medical Genetics Dec 2019, 56 (12) 809-817; DOI: 10.1136/jmedgenet-2019-106281
Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?
Ma'n H Zawati, David Parry, Adrian Thorogood, Minh Thu Nguyen, Kym M Boycott, David Rosenblatt, Bartha Maria Knoppers

Journal of Medical Genetics Jan 2014, 51 (1) 68-70; DOI: 10.1136/jmedgenet-2013-101934
SeqHBase: a big data toolset for family based sequencing data analysis
Min He, Thomas N Person, Scott J Hebbring, Ethan Heinzen, Zhan Ye, Steven J Schrodi, Elizabeth W McPherson, Simon M Lin, Peggy L Peissig, Murray H Brilliant, Jason O'Rawe, Reid J Robison, Gholson J Lyon, Kai Wang

Journal of Medical Genetics Apr 2015, 52 (4) 282-288; DOI: 10.1136/jmedgenet-2014-102907

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