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Article

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

Nature biotechnology - 18 Dec 2011

Reumers Joke, De Rijk Peter, Zhao Hui, Liekens Anthony, Smeets Dominiek, Cleary John, Van Loo Peter, Van Den Bossche Maarten, Catthoor Kirsten, Sabbe Bernard, Despierre Evelyn, Vergote Ignace, Hilbush Brian, Lambrechts Diether, Del-Favero Jurgen

Abstract excerpt

Distinguishing single-nucleotide variants (SNVs) from errors in whole-genome sequences remains challenging. Here we describe a set of filters, together with a freely accessible software tool, that selectively reduce error rates and thereby facilitate variant detection in data from two short-read...

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PMID: 22178994
DOI: 10.1038/nbt.2053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-22178994-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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