Biofilter as a functional annotation pipeline for common and rare copy number burden

Pacific Symposium on Biocomputing

Volumn , Issue , 2016, Pages 357-368

  Kim, Dokyoon ^a   Lucas, Anastasia ^a   Glessner, Joseph ^b   Verma, Shefali S ^a   Bradford, Yuki ^a   Li, Ruowang ^a   Frase, Alex T ^a   Hakonarson, Hakon ^b   Peissig, Peggy ^c   Brilliant, Murray ^c   Ritchie, Marylyn D ^a,d  

^a PENNSYLVANIA STATE UNIVERSITY   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c MARSHFIELD CLINIC   (United States)

^d GEISINGER HEALTH SYSTEM   (United States)

Author keywords

Copy number burden; Electronic medical record; Functional annotation; Precision medicine

Indexed keywords

BIOFILTERS; BIOINFORMATICS; CELL SIGNALING; CHOLESTEROL; GENES; MEDICAL COMPUTING; MEDICINE; PROTEINS; RISK ASSESSMENT; VIRUSES;

COPY NUMBER; COPY NUMBER VARIATIONS; DISEASE SUSCEPTIBILITY; ELECTRONIC HEALTH RECORD; ELECTRONIC MEDICAL RECORD; FUNCTIONAL ANNOTATION; PERSONALIZED MEDICINES; RESISTANCE TO DISEASE;

PIPELINES;

CHOLESTEROL;

BIOLOGICAL MODEL; BIOLOGY; BLOOD; COPY NUMBER VARIATION; ELECTRONIC HEALTH RECORD; FEMALE; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; PERSONALIZED MEDICINE; PROCEDURES; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; SOFTWARE; STATISTICS AND NUMERICAL DATA;

CHOLESTEROL; COMPUTATIONAL BIOLOGY; DNA COPY NUMBER VARIATIONS; ELECTRONIC HEALTH RECORDS; FEMALE; HUMANS; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE ANNOTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PRECISION MEDICINE; QUANTITATIVE TRAIT LOCI; SOFTWARE;

EID: 85012180600     PISSN: 23356928     EISSN: 23356936     Source Type: Journal    
DOI: 10.1142/9789814749411_0033     Document Type: Conference Paper

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