Settling the score: Variant prioritization and Mendelian disease

Nature Reviews Genetics

Volumn 18, Issue 10, 2017, Pages 599-612

  Eilbeck, Karen ^a   Quinlan, Aaron ^a   Yandell, Mark ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EXON; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HUMAN; INHERITANCE; MENDELIAN DISEASE; PENETRANCE; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; REVIEW; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; COPY NUMBER VARIATION; DISEASES; GENE STRUCTURE; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HUMAN GENOME;

DISEASE; DNA COPY NUMBER VARIATIONS; GENETIC STRUCTURES; GENETIC VARIATION; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS;

EID: 85029470345     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg.2017.52     Document Type: Review

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