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Article

Technology-specific error signatures in the 1000 Genomes Project data.

Human genetics - 1 Oct 2011

Nothnagel Michael, Herrmann Alexander, Wolf Andreas, Schreiber Stefan, Platzer Matthias, Siebert Reiner, Krawczak Michael, Hampe Jochen

Abstract excerpt

Next-generation sequencing (NGS) will likely facilitate a better understanding of the causes and consequences of human genetic variability. In this context, the validity of NGS-inferred single-nucleotide variants (SNVs) is of paramount importance. We therefore developed a statistical framework to assess the fidelity of three common NGS platforms. Using aligned DNA sequence data from two completely sequenced...

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Identifiers

PMID: 21344269
DOI: 10.1007/s00439-011-0971-3

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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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