Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

European Journal of Human Genetics

Volumn 25, Issue 7, 2017, Pages 869-876

  Mitt, Mario ^a,b   Kals, Mart ^a,b   Pärn, Kalle ^a,c   Gabriel, Stacey B ^d   Lander, Eric S ^d   Palotie, Aarno ^c,d   Ripatti, Samuli ^c   Morris, Andrew P ^a,e   Metspalu, Andres ^a,b   Esko, Tõnu ^a,d   Mägi, Reedik ^a   Palta, Priit ^a,c  

^a UNIVERSITY OF TARTU   (Estonia)

^b UNIVERSITY OF TARTU   (Estonia)

^c UNIVERSITY OF HELSINKI   (Finland)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ADULT; ARTICLE; CONTROLLED STUDY; ESTONIAN (CITIZEN); GENETIC IMPUTATION; GENETIC VARIATION; GENOTYPE; HAPLOTYPE; HUMAN; POPULATION GENETICS; PRIORITY JOURNAL; STATISTICAL ANALYSIS; WHOLE GENOME SEQUENCING; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENOME-WIDE ASSOCIATION STUDY; HUMAN GENOME; MALE; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARD; STANDARDS;

FEMALE; GENE FREQUENCY; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; REFERENCE STANDARDS; SEQUENCE ANALYSIS, DNA;

EID: 85017438205     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2017.51     Document Type: Article

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