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4 Result(s)

within Gill Bejerano Remove this filter Animal Genetics and Genomics Remove this filter

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  1. Article

    Open Access

    Analysis of structural variation among inbred mouse strains

    ‘Long read’ sequencing methods have been used to identify previously uncharacterized structural variants that cause human genetic diseases. Therefore, we investigated whether long read sequencing could facilitate...

    Ahmed Arslan, Zhuoqing Fang, Meiyue Wang, Yalun Tan, Zhuanfen Cheng… in BMC Genomics (2023)

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  2. No Access

    Article

    S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing

    Exome analysis of patients with a likely monogenic disease does not identify a causal variant in over half of cases. Splice-disrupting mutations make up the second largest class of known disease-causing mutati...

    Karthik A. Jagadeesh, Joseph M. Paggi, James S. Ye, Peter D. Stenson… in Nature Genetics (2019)

  3. No Access

    Article

    M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

    Gill Bejerano and colleagues present M-CAP, a classifier that estimates variant pathogenicity in clinical exome data sets. They show that M-CAP outperforms other existing methods at all thresholds and correctl...

    Karthik A Jagadeesh, Aaron M Wenger, Mark J Berger, Harendra Guturu… in Nature Genetics (2016)

  4. No Access

    Article

    Enhancers: five essential questions

    Although enhancers are crucial and widespread gene-regulatory elements, we are far from a complete understanding of how they function or their importance in areas such as disease and evolution. Five prominent ...

    Len A. Pennacchio, Wendy Bickmore, Ann Dean, Marcelo A. Nobrega… in Nature Reviews Genetics (2013)