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Article

Direct comparison of performance of single nucleotide variant calling in human genome with alignment-based and assembly-based approaches.

Scientific reports - 8 Sept 2017

Wu Leihong, Yavas Gokhan, Hong Huixiao, Tong Weida, Xiao Wenming

Abstract excerpt

Complementary to reference-based variant detection, recent studies revealed that many novel variants could be detected with de novo assembled genomes. To evaluate the effect of reads coverage and the accuracy of assembly-based variant calling, we simulated short reads containing more than 3 million of single nucleotide variants (SNVs) from the whole human genome and compared the efficiency of SNV calling between...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28887485
DOI: 10.1038/s41598-017-10826-9
PMCID: PMC5591230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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