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Article

Association Analysis and Meta-Analysis of Multi-allelic Variants for Large Scale Sequence Data

2017-10-03

Abstract excerpt

<h4>Motivation:</h4> There is great interest to understand the impact of rare variants in human diseases using large sequence datasets. In deep sequences datasets of >10,000 samples, ∼10% of the variant sites are observed to be multi-allelic. Many of the multi-allelic variants have been shown to be functional and disease relevant. Proper analysis of multi-allelic variants is critical to the success of a sequencin...

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Literature Corpus work
ded492e6-a8c3-5fd5-b51e-16d8e74a60bc
DOI
10.1101/197913
Open publication

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