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Article

Analysis of optimal alignments unfolds aligners' bias in existing variant profiles.

BMC bioinformatics - 6 Oct 2016

Tran Quang, Gao Shanshan, Phan Vinhthuy

Abstract excerpt

Efforts such as International HapMap Project and 1000 Genomes Project resulted in a catalog of millions of single nucleotides and insertion/deletion (INDEL) variants of the human population. Viewed as a reference of existing variants, this resource commonly serves as a gold standard for studying and developing methods to detect genetic variants. Our analysis revealed that this reference contained thousands of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27766935
DOI: 10.1186/s12859-016-1216-1
PMCID: PMC5073887

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