1. In this cohort study of families with suspected Mendelian disorders for whom preliminary genetic testing had not revealed a diagnosis, nearly one-third of families obtained a plausible molecular diagnosis after genome sequencing. 2. While enhancing prior exome sequencing likely would have revealed the causal variants in most cases, over one-quarter of the new diagnoses
The genomic architecture of inherited DNA variants sciencedaily.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from sciencedaily.com Daily Mail and Mail on Sunday newspapers.
<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>
YKT6 gene variants cause a new genetic disorder finds a new study sciencedaily.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from sciencedaily.com Daily Mail and Mail on Sunday newspapers.