FAVR (Filtering and Annotation of Variants that are Rare): Methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

BMC Bioinformatics

Volumn 14, Issue 1, 2013, Pages

  Pope, Bernard J ^a   Nguyen Dumont, Tú ^a   Odefrey, Fabrice ^a   Hammet, Fleur ^a   Bell, Russell ^b   Tao, Kayoko ^b   Tavtigian, Sean V ^b   Goldgar, David E ^c   Lonie, Andrew ^a   Southey, Melissa C ^a   Park, Daniel J ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF UTAH   (United States)

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

Author keywords

Annotation; FAVR; Filtering; Massively parallel sequencing; Rare genetic variants

Indexed keywords

ANNOTATION; BREAST CANCER RISK; DOWNSTREAM-PROCESSING; FAVR; GENETIC VARIANTS; MASSIVELY PARALLEL SEQUENCING; SEQUENCE ALIGNMENTS; SIGNAL PRESERVATION;

FILTRATION;

ARTICLE; BREAST TUMOR; COMPUTER PROGRAM; DNA SEQUENCE; EXOME; FEMALE; GENETIC VARIABILITY; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; MOLECULAR GENETICS; PHENOTYPE; SEQUENCE ALIGNMENT;

BREAST NEOPLASMS; EXOME; FEMALE; GENETIC VARIATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR SEQUENCE ANNOTATION; PHENOTYPE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 84874147303     PISSN: None     EISSN: 14712105     Source Type: Journal    
DOI: 10.1186/1471-2105-14-65     Document Type: Article

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