Article

Kmer2SNP: reference-free SNP calling from raw reads based on matching

2020-05-17

Abstract excerpt

The development of DNA sequencing technologies provides the opportunity to call heterozygous SNPs for each individual. SNP calling is a fundamental problem of genetic analysis and has many applications, such as gene-disease diagnosis, drug design, and ancestry inference. Reference-based SNP calling approaches generate highly accurate results, but they face serious limitations especially when high-quality reference...

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Literature Corpus work: 60526bd0-14d0-577c-95f2-37bd3a10bcb6
DOI: 10.1101/2020.05.17.100305

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