Article

Mendelian inheritance errors in whole genome sequenced trios are enriched in repeats and cluster within copy number losses

2017-12-28

Abstract excerpt

Trio-based whole genome sequencing (WGS) data can contribute significantly towards the development of quality control methods that can be applied to non-family WGS. Mendelian inheritance errors (MIEs) in parent-offspring trios are commonly attributed to erroneous sequencing calls, as the rate of true de novo mutations is extremely low compared to the incidence of MIEs. Here, we analyzed WGS data from 1,314 trios a...

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Literature Corpus work: 421b624b-aa39-55b5-b452-2ce9d39657e7
DOI: 10.1101/240424

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