The VAAST Variant Prioritizer (VVP): Ultrafast, easy to use whole genome variant prioritization tool

BMC Bioinformatics

Volumn 19, Issue 1, 2018, Pages

  Flygare, Steven ^a,f   Hernandez, Edgar Javier ^a,b   Phan, Lon ^c   Moore, Barry ^a,b   Li, Man ^a   Fejes, Anthony ^e   Hu, Hao ^d   Eilbeck, Karen ^a,b   Huff, Chad ^d   Jorde, Lynn ^a,b   G Reese, Martin ^e   Yandell, Mark ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b USTAR Center for Genetic Discovery   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^e Fabric Genomics Inc   (United States)

^f IDbyDNA Inc   (United States)

Author keywords

Genomics; Human genome; Variant prioritization; Variants of uncertain significance

Indexed keywords

CLINICAL RESEARCH; DIAGNOSIS;

CLINICAL APPLICATION; GENOMICS; HUMAN GENOMES; PRIORITIZATION; SCALABLE SOLUTION; SEQUENCE CONSERVATION; VARIANTS OF UNCERTAIN SIGNIFICANCE; WHOLE GENOME SEQUENCES;

GENES;

BIOLOGY; GENETIC DATABASE; GENETIC VARIATION; GENETICS; HUMAN; HUMAN GENOME; METABOLISM; PROCEDURES; RECEIVER OPERATING CHARACTERISTIC; SINGLE NUCLEOTIDE POLYMORPHISM; SOFTWARE; TIME FACTOR; WHOLE GENOME SEQUENCING; ZYGOTE;

COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; GENETIC VARIATION; GENOME, HUMAN; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; ROC CURVE; SOFTWARE; TIME FACTORS; WHOLE GENOME SEQUENCING; ZYGOTE;

EID: 85042543566     PISSN: None     EISSN: 14712105     Source Type: Journal    
DOI: 10.1186/s12859-018-2056-y     Document Type: Article

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