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Bioinformatically relevant variants identified through exome sequencing.

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posted on 16.06.2020, 17:36 by Bernardo Blanco-Sánchez, Aurélie Clément, Sara J. Stednitz, Jennifer Kyle, Judy L. Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B. Phillips, Ellen Macnamara, Yan Huang, David R. Adams, Camilo Toro, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft, Erika M. Zink, Kent J. Bloodsworth, Kelly G. Stratton, David M. Koeller, Thomas O. Metz, Philip Washbourne, Monte Westerfield

a, nomenclature based on GRCh37 (hg19). CADD, Combined Annotation Dependent Depletion (https://cadd.gs.washington.edu/). PolyPhen2 (http://genetics.bwh.harvard.edu/pph2/). SIFT, Sorting Intolerant From Tolerant (https://sift.bii.a-star.edu.sg/). gnomAD, Genome Aggregation Database (https://gnomad.broadinstitute.org/).

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