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Article

Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16p

2022-03-23

Abstract excerpt

The dominant human genetics paradigm for converting association to mechanism (“variant-to-function”) involves iteratively mapping individual associations to specific SNPs and to the proximal genes through which they act. In contrast, here we demonstrate the feasibility of extracting biological insight from a very large (>10Mb) region of the genome, and leverage this approach to derive insight into autism spectrum...

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Literature Corpus work
ff381eca-9494-52a3-ad1f-5c23efdf5a20
DOI
10.1101/2022.03.23.22272826
Open publication

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Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16pDOI 10.1101/2022.03.23.22272826
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