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Whole exome sequencing in patients with congenital cataracts
Author(s) -
Liskova P.
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2015.0068
Subject(s) - exome sequencing , cataracts , dna sequencing , exome , disease , computational biology , human genetics , genetic heterogeneity , medicine , genetics , bioinformatics , biology , mutation , gene , pathology , phenotype
Summary Next‐generation sequencing ( NGS ) represents one of the most significant technological advances in the biological sciences of the past decade. NGS is now being introduced by many laboratories for routine diagnostic use. For genetically heterogeneous disorders approaches include custom‐designed target enrichment permitting analysis of disease‐associated gene panels and whole exome sequencing ( WES ). The sensitivity, speed and cost per sample makes WES a valuable tool and it is increasingly being used to identify the molecular genetic causes of inherited cataracts. The detection rate of disease‐causing mutations is high and the results enhance clinical diagnosis and genetic counselling of the affected families.