X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

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A general framework for estimating the relative pathogenicity of human genetic variants

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Mapping short DNA sequencing reads and calling variants using mapping quality scores

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Detection of nonneutral substitution rates on mammalian phylogenies

Katherine S. Pollard, Melissa J. Hubisz, Kate R. Rosenbloom et al. · Genome Research · 2009 · 2.5K citations · Full text

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