InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

American Journal of Human Genetics

Volumn 100, Issue 2, 2017, Pages 267-280

  Li, Quan ^a   Wang, Kai ^a,b  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b Howard Hughes Medical Institute   (United States)

Author keywords

ACMG; ANNOVAR; clinical interpretation; ClinVar; genetic diagnosis; InterVar; variant annotation; variant interpretation

Indexed keywords

ARTICLE; AUTISM; AUTOMATION; COMPUTER INTERFACE; DATABASE MANAGEMENT SYSTEM; DEVELOPMENTAL DISORDER; EPILEPSY; GENE FREQUENCY; GENETIC VARIABILITY; HEALTH CARE ORGANIZATION; HUMAN; MENTAL DISEASE; MISSENSE MUTATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; SANGER SEQUENCING; SCHIZOPHRENIA; WHOLE EXOME SEQUENCING; ALGORITHM; BIOLOGY; EVIDENCE BASED MEDICINE; GENETIC DATABASE; GENETIC SCREENING; GENETIC VARIATION; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MOLECULAR GENETICS; PROCEDURES; SOFTWARE;

ALGORITHMS; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; EVIDENCE-BASED MEDICINE; GENETIC TESTING; GENETIC VARIATION; GENOME, HUMAN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR SEQUENCE ANNOTATION; MUTATION, MISSENSE; NEURODEVELOPMENTAL DISORDERS; SOFTWARE;

EID: 85010878258     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.01.004     Document Type: Article

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