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Article

Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines.

BMC genomics - 19 Jan 2021

Weißbach Stephan, Sys Stanislav, Hewel Charlotte, Todorov Hristo, Schweiger Susann, Winter Jennifer, Pfenninger Markus, Torkamani Ali, Evans Doug, Burger Joachim, Everschor-Sitte Karin, May-Simera Helen Louise, Gerber Susanne

Abstract excerpt

BACKGROUND: Next Generation Sequencing (NGS) is the fundament of various studies, providing insights into questions from biology and medicine. Nevertheless, integrating data from different experimental backgrounds can introduce strong biases. In order to methodically investigate the magnitude of systematic errors in single nucleotide variant calls, we performed a cross-sectional observational study on a genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33468057
DOI: 10.1186/s12864-020-07362-8
PMCID: PMC7814447

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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