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

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 clients....

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Autori principali: Kumar, Pankaj, Al-Shafai, Mashael, Al Muftah, Wadha Ahmed, Chalhoub, Nader, Elsaid, Mahmoud F, Aleem, Alice Abdel, Suhre, Karsten
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4216909/
https://ncbi.nlm.nih.gov/pubmed/25339461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-7-747
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