Exome and genome sequencing: A revolution for the discovery and diagnosis of monogenic disorders

Journal of Internal Medicine

Volumn 279, Issue 1, 2016, Pages 3-15

  Stranneheim, H ^a   Wedell, A ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Genomic medicine; Massively parallel DNA sequencing; Monogenic disorders; Whole exome sequencing; Whole genome sequencing

Indexed keywords

DNA SEQUENCE; EXOME; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GOLD STANDARD; HUMAN; HUMAN GENOME; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MONOGENIC DISORDER; NEXT GENERATION SEQUENCING; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; GENETIC DISEASES, INBORN; GENOMICS;

EXOME; GENE FREQUENCY; GENETIC DISEASES, INBORN; GENOMICS; HUMANS; SEQUENCE ANALYSIS, DNA;

EID: 84949627233     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/joim.12399     Document Type: Review

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