Alternate-locus aware variant calling in whole genome sequencing

Genome Medicine

Volumn 8, Issue 1, 2016, Pages

  Jäger, Marten ^a   Schubach, Max ^a   Zemojtel, Tomasz ^a   Reinert, Knut ^b   Church, Deanna M ^c   Robinson, Peter N ^a,b,d,e  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b FREIE UNIVERSITÄT BERLIN   (Germany)

^c Department of Mathematics and Computer Science ^*  (United States)

^d JACKSON LABORATORY   (United States)

^e UNIVERSITY OF CONNECTICUT   (United States)

Author keywords

Genome sequencing; GRCh38; NGS; WGS

Indexed keywords

ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN GENOME; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SINGLE NUCLEOTIDE POLYMORPHISM; ALGORITHM; DNA SEQUENCE; GENETIC VARIATION; HETEROZYGOTE; PROCEDURES; SEQUENCE ALIGNMENT;

ALGORITHMS; GENETIC VARIATION; GENOME, HUMAN; HETEROZYGOTE; HUMANS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 85003816199     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-016-0383-z     Document Type: Article

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