Open AccessWhole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma
Author(s) -
Manisha Shah,
Manojkumar Kumaran,
Prakash Chermakani,
Mohideen Abdul Kader,
R Ramakrishnan,
Subbiah R. Krishnadas,
Bharanidharan Devarajan,
Periasamy Sundaresan
Publication year - 2021
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_3301_20
Subject(s) - exome sequencing , sanger sequencing , open angle glaucoma , genetics , candidate gene , medicine , glaucoma , gene , bioinformatics , biology , ophthalmology , mutation
To identify the pathogenic variants associated with primary open-angle glaucoma (POAG) using whole-exome sequencing (WES) data of a large South Indian family.