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A beginners guide to SNP calling from high-throughput DNA-sequencing data.

Human genetics - 1 Oct 2012

Altmann André, Weber Peter, Bader Daniel, Preuss Michael, Binder Elisabeth B, Müller-Myhsok Bertram

Abstract excerpt

High-throughput DNA sequencing (HTS) is of increasing importance in the life sciences. One of its most prominent applications is the sequencing of whole genomes or targeted regions of the genome such as all exonic regions (i.e., the exome). Here, the objective is the identification of genetic variants such as single nucleotide polymorphisms (SNPs). The extraction of SNPs from the raw genetic sequences involves...

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PMID: 22886560
DOI: 10.1007/s00439-012-1213-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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