Whole-exome sequencing effective at diagnosing elusive genetic disorders: Tests diagnose about 25% of patients, find a variety of mutation types

American Journal of Medical Genetics, Part A

Volumn 167, Issue 2, 2015, Pages vii-viii

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Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; FAMILY HISTORY; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; MUTATION RATE; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PHENOTYPIC VARIATION; RETINA DISEASE; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING;

EID: 84921343903     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36965     Document Type: Article

References (3)

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3. Yang Y, Muzny D, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen W, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet A, Lupski J, Plon S, Gibbs R, Eng C. 2014. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312(18):1870-1879.