Annotating DNA variants is the next major goal for human genetics

American Journal of Human Genetics

Volumn 94, Issue 1, 2014, Pages 5-10

  Cutting, Garry R ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA;

ALLELE; CYSTIC FIBROSIS; DNA SEQUENCE; DNA STRUCTURE; FAMILIAL DISEASE; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEMOGLOBINOPATHY; HETEROZYGOTE DETECTION; HUMAN; HUMAN GENETICS; MENDELIAN DISORDER; MOLECULAR PATHOLOGY; MOLECULARLY TARGETED THERAPY; NEWBORN SCREENING; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; AUTOSOMAL DOMINANT DISORDER; CLINICAL EVALUATION; CLINICAL LABORATORY; GENE IDENTIFICATION; GENE SEGREGATION; GENOME ANALYSIS; HEALTH CARE PERSONNEL; HEALTH CARE SYSTEM; KNOWLEDGE; MEDICAL EDUCATION; MENDELIAN DISEASE; MOLECULAR GENETICS; MOLECULAR THERAPY; PHENOTYPIC VARIATION;

EID: 84891779687     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.12.008     Document Type: Note

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