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The genomic architecture of inherited DNA var

<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>

United statesBaylor college of medicineFranciscoc ceballosSalud carlosClaudia mb carvalhoEric boerwinkleJennifere poseyEnder karacaJamesr lupskiPengfei liuYavuz bayramV reid suttonTugce bozkurt yozgatliTadahiro mitaniDavut pehlivanDavid valle

Massive Sequencing Study Leads to High Rate of Diagnosis in Pediatric Genetic Diseases

More than 4 in 10 participants received a rare disease diagnosis as a result of the analysis.

United kingdomJennifere poseyJamesr lupskiBaylor college of medicineNational cancer instituteNew england journalDeciphering developmental disordersBaylor collegeRare pediatric diseaseNational cancerAccessed july

Expanding the diagnosis for Xia-Gibbs Syndrome

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.

United statesWofford cainAdamw hansenKirsty mcwalterQingchang mengMichael khayatVaruna chanderJennifer friedmanShoudong liJessica omark osheaFrancish sansburyRichard gibbsJilla rosenfeldJamesr lupskiClaudiaal ruivenkampEmiliak bijlsma

Baylor researchers expand diagnosis for Xia-Gibbs Syndrome

Baylor researchers expand diagnosis for Xia-Gibbs Syndrome
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NHGRI Takes New, WGS Look at Mendelian Diseases

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 Hospital, Washin

United statesUniversity of washingtonStanford universityUnited kingdomBaylor college of medicineLisa chadwickJennifere poseyDeboraha nickersonStephenb montgomeryAllison proffittEricj vilainAnne odonnell luriaBroad instituteCenters for mendelian genomicsNational institutes of healthGenetic medicine research at children national hospital