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<p>In a study that spans more than a decade, researchers at Baylor College of Medicine have looked at generations of families in a specific population to reveal the role newly inherited DNA variants play on recessive disease traits, and in the process, they have created a population specific database revealing unique DNA information unseen in larger cohorts.</p> ....
Expanding the diagnosis for Xia-Gibbs Syndrome scienceblog.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from scienceblog.com Daily Mail and Mail on Sunday newspapers.
Baylor researchers expand diagnosis for Xia-Gibbs Syndrome miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.
NHGRI Takes New, WGS Look at Mendelian Diseases July 27, 2021 By Allison Proffitt July 27, 2021 | The National Institutes of Health has made a five-year, nearly $80 million commitment to the establishment of a Mendelian Genomics Research Consortium of five clinical laboratories and one data coordinating center. The Consortium will build on previous National Human Genome Research Institute (NHGRI) work to develop new methods for identifying the genetic causes of single-gene diseases. The clinical centers will be run by Stephen B. Montgomery, Ph.D., at Stanford University School of Medicine, Stanford, California; Deborah A. Nickerson, Ph.D., at the University of Washington, Department of Genome Sciences, Seattle; Anne O Donnell-Luria, M.D., Ph.D., at the Broad Institute of MIT and Harvard, Cambridge, Massachusetts, and Boston Children s Hospital; Eric J. Vilain, M.D., Ph.D., at the Center for Genetic Medicine Research at Children s National H ....