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Genome sequencing may offer diagnostic utility beyond exome sequencing at acceptable cost

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 ....

Institute Of Human Genetics In Leipzig , Minute Medicine Inc , Abroad Center , Rating Level , Mendelian Genomics , Human Genetics ,

The genomic architecture of inherited DNA variants

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.

Gregor Mendel , Davut Pehlivan , Jamesr Lupski , Zeynep Coban Akdemir , Tugce Bozkurt Yozgatli , Claudia Mb Carvalho , Lupski Lab At Baylor , National Institute Of Neurological Disorders , Moffitt Cancer Center , Blood Institute , Baylor Hopkins Center , National Human Genome Research Institute , Cullen Foundation , Us National Human Genome Research Institute , Uthealth School Of Public Health , Acibadem University , Pacific Northwest Research Institute , Public Health , Xiaofei Song , Lupski Lab , Human Genome Project , Cullen Foundation Endowed Chair , Human Genome Research Institute , National Heart Lung , Mendelian Genomics , Baylor College ,

Baylor study reveals role of newly inherited DNA variants in recessive diseases

You have your mother's eyes and your father's smile, but genetics is much more than just what's on the surface. ....

Jamesr Lupski , Zeynep Coban Akdemir , Claudia Mb Carvalho , Davut Pehlivan , Gregor Mendel , Tugce Bozkurt Yozgatli , Lupski Lab At Baylor , National Human Genome Research Institute , Uthealth School Of Public Health , Moffitt Cancer Center , Cullen Foundation , Baylor College Of Medicine , Acibadem University , Blood Institute , Baylor Hopkins Center , National Institute Of Neurological Disorders , Us National Human Genome Research Institute , Pacific Northwest Research Institute , Baylor College , Public Health , Xiaofei Song , Lupski Lab , Human Genome Project , Cullen Foundation Endowed Chair , Human Genome Research Institute , National Heart Lung ,

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>
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United States , Baylor College Of Medicine , Franciscoc Ceballos , Salud Carlos , Claudia Mb Carvalho , Eric Boerwinkle , Jennifere Posey , Ender Karaca , Jamesr Lupski , Pengfei Liu , Yavuz Bayram , V Reid Sutton , Tugce Bozkurt Yozgatli , Tadahiro Mitani , Davut Pehlivan , David Valle , Richarda Lewis , Gregor Mendel , Donnam Muzny , Richarda Gibbs , Zeynep Coban Akdemir , Ada Hamosh , Tomasz Gambin , Nara Sobreira , Shalinin Jhangiani , Sanford Imagenetics ,

YKT6 gene variants cause a new genetic disorder finds a new study

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.

Paula Hertel , Mengqi Ma , Mythily Ganapathi , Thomas Christians , Thomas Christian , Baylor Hopkins Center , Rett Syndrome Research , International Rett Syndrome Foundation , Us National Human Genome Research Institute , James Lupski At Baylor College Of Medicine , Blood Institute , Doris Duke Charitable Foundation , National Institute Of Child Health , National Heart Lung , Human Development , Huffington Foundation , Columbia University Irving Medical Center , Davut Pehlivan , Texas Children , James Lupski , Baylor College , Baylor Genetics , Saint Thomas Christians , Saint Thomas Christian , Dan Duncan Neurological Research Institute , Research Infrastructure Programs ,