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Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.

Advances in experimental medicine and biology - 1 Jan 2018

Biswas Pooja, Naeem Muhammad Asif, Ali Muhammad Hassaan, Assir Muhammad Zaman, Khan Shaheen N, Riazuddin Sheikh, Hejtmancik J Fielding, Riazuddin S Amer, Ayyagari Radha

Abstract excerpt

PURPOSE: To identify the molecular basis of inherited retinal degeneration (IRD) in a familial case of Pakistani origin using whole-exome sequencing. METHODS: A thorough ophthalmic examination was completed, and genomic DNA was extracted using standard protocols. Whole exome(s) were captured with Agilent V5 + UTRs probes and sequenced on Illumina HiSeq genome analyzer. The exomeSuite software was used to filter...

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PMID: 29721947
DOI: 10.1007/978-3-319-75402-4_27

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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