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....

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Kumar, Pankaj, Al-Shafai, Mashael, Al Muftah, Wadha Ahmed, Chalhoub, Nader, Elsaid, Mahmoud F, Aleem, Alice Abdel, Suhre, Karsten
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2014
Aiheet:
Research Article
Linkit: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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