Article

Machine learning-based detection of insertions and deletions in the human genome

2019-05-05

Abstract excerpt

Insertions and deletions (indels) make a critical contribution to human genetic variation. While indel calling has improved significantly, it lags dramatically in performance relative to single-nucleotide variant calling, something of particular concern for clinical genomics where larger scale disruption of the open reading frame can commonly cause disease. Here, we present a machine learning-based approach to the...

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Literature Corpus work: 178af24f-84f9-57c5-ba24-1776a719e8c7
DOI: 10.1101/628222

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