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Article

Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance.

BMC research notes - 22 Oct 2014

Kumar Pankaj, Al-Shafai Mashael, Al Muftah Wadha Ahmed, Chalhoub Nader, Elsaid Mahmoud F, Aleem Alice Abdel, Suhre Karsten

Abstract excerpt

BACKGROUND: With diminishing costs of next generation sequencing (NGS), whole genome analysis becomes a standard tool for identifying genetic causes of inherited diseases. Commercial NGS service providers in general not only provide raw genomic reads, but further deliver SNP calls to their client...

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PMID: 25339461
DOI: 10.1186/1756-0500-7-747
PMCID: PMC4216909

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25339461-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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