Building a genome analysis pipeline to predict disease risk and prevent disease

Journal of Molecular Biology

Volumn 425, Issue 21, 2013, Pages 3993-4005

  Bromberg, Y ^a  

^a RUTGERS UNIVERSITY   (United States)

Author keywords

genotype phenotype relationships; medical genomics; variant burden; variant calling; whole genome sequencing

Indexed keywords

DNA; NUCLEOTIDE; RNA; SPACER DNA; TRANSCRIPTION FACTOR;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BINDING SITE; CHROMOSOME; CHROMOSOME TRANSLOCATION; COUNSELING; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DISEASES; DNA BINDING; ENHANCER REGION; ENVIRONMENT; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE PRODUCT; GENETIC COUNSELING; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC VARIABILITY; GENOME; GENOME ANALYSIS; HAPLOTYPE; HUMAN; HUMAN GENOME; MACHINE; MEDICAL CARE; MEDICAL DECISION MAKING; MEDICAL PRACTICE; METHODOLOGY; NEWBORN SCREENING; PHENOTYPE; PREDICTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; REVIEW; RNA SEQUENCE; SEGMENTAL DUPLICATION; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION SITE; TRANSCRIPTOMICS; TURNAROUND TIME;

CNV; COPY NUMBER VARIATION; ENCODE; ENCYCLOPEDIA OF DNA ELEMENTS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE-PHENOTYPE RELATIONSHIPS; GWAS; HGP; HUMAN GENOME PROJECT; INDEL; INSERTION/DELETION VARIANT; MEDICAL GENOMICS; NEXT-GENERATION SEQUENCING; NGS; SINGLE-NUCLEOTIDE POLYMORPHISM; SNP; VARIANT BURDEN; VARIANT CALLING; WES; WGS; WHOLE-EXOME SEQUENCING; WHOLE-GENOME SEQUENCING;

GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; MUTATION; RISK; SEQUENCE ANALYSIS, DNA;

EID: 84885174368     PISSN: 00222836     EISSN: 10898638     Source Type: Journal    
DOI: 10.1016/j.jmb.2013.07.038     Document Type: Review

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