Article

NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks

2019-12-30

Abstract excerpt

Long-read sequencing enables variant detection in genomic regions that are considered difficult-to-map by short-read sequencing. To fully exploit the benefits of longer reads, here we present a deep-learning method NanoCaller, which detects SNPs using long-range haplotype information, then phases long reads with called SNPs and calls indels with local realignment. Evaluation on 8 human genomes demonstrated that Na...

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Literature Corpus work: 71cc88f8-6439-53dc-9847-9a0b4c1918d4
DOI: 10.1101/2019.12.29.890418

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