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

BMC Research Notes

Volumn 7, Issue 1, 2014, Pages

  Kumar, Pankaj ^a   Al Shafai, Mashael ^a   Al Muftah, Wadha Ahmed ^a   Chalhoub, Nader ^a   Elsaid, Mahmoud F ^b   Aleem, Alice Abdel ^a   Suhre, Karsten ^a,c  

^a WEILL CORNELL MEDICAL COLLEGE   (Qatar)

^b HAMAD MEDICAL CORPORATION   (Qatar)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

CASAVA; GATK; Genotype calling; Illumina; Mendelian inheritance; Multi sample calling; NGS; Qatari population; Trios; Variant; WGS pipeline

Indexed keywords

ALGORITHM; ARAB; BIOLOGICAL MODEL; COMPARATIVE STUDY; COMPUTER PROGRAM; DIABETES MELLITUS; ETHNOLOGY; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; OBESITY; PEDIGREE; PHENOTYPE; PROCEDURES; RARE DISEASE; REPRODUCIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION STUDY;

ALGORITHMS; ARABS; DATABASES, GENETIC; DIABETES MELLITUS; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HEREDITY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MODELS, GENETIC; OBESITY; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RARE DISEASES; REPRODUCIBILITY OF RESULTS; SOFTWARE;

EID: 84932169705     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-7-747     Document Type: Article

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