Allele balance bias identifies systematic genotyping errors and false disease associations

Human Mutation

Volumn 40, Issue 1, 2019, Pages 115-126

  Muyas, Francesc ^a,b,c   Bosio, Mattia ^a,b   Puig, Anna ^a,b   Susak, Hana ^a,b   Domènech, Laura ^a,b,d   Escaramis, Georgia ^a,b,d   Zapata, Luis ^a,b   Demidov, German ^a,b,c   Estivill, Xavier ^e,f   Rabionet, Raquel ^a,b,d,g   Ossowski, Stephan ^a,b,c  

^a BARCELONA INSTITUTE OF SCIENCE AND TECHNOLOGY   (Spain)

^b UNIVERSITAT POMPEU FABRA   (Spain)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^e SIDRA MEDICAL AND RESEARCH CENTER   (Qatar)

^f Dexeus Women's Health   (Spain)

^g UNIVERSITY OF BARCELONA   (Spain)

Author keywords

allele balance; false positive variant calls; genetic variant detection; systematic NGS errors

Indexed keywords

ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FALSE POSITIVE RESULT; GENOTYPING TECHNIQUE; HUMAN; PRIORITY JOURNAL; SANGER SEQUENCING; SYSTEMATIC ERROR; WHOLE EXOME SEQUENCING; BIOLOGICAL MODEL; DISEASES; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETICS; GENOTYPE; HUMAN GENOME; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL BIAS;

ALLELES; BIAS; DATABASES, GENETIC; DISEASE; GENETIC ASSOCIATION STUDIES; GENOME, HUMAN; GENOTYPE; GENOTYPING TECHNIQUES; HUMANS; MODELS, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 85057097529     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23674     Document Type: Article

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