Article

An integrated Asian human SNV and indel benchmark combining multiple sequencing methods

2019-09-05

Abstract excerpt

Precision medicine of human requires an accurate and complete reference variant benchmark for different populations. A human standard cell line of NA12878 provides a good reference for part of the human populations, but it is still lack of a fine reference standard sample and variant benchmark for the Asians. Here, we constructed a stabilized cell line of a Chinese Han volunteer. We received about 4.16T clean data...

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Literature Corpus work: 723a8d61-6a03-5c91-8fd8-2d5c35826354
DOI: 10.1101/759043

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