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Article

Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies.

Current opinion in allergy and clinical immunology - 1 Dec 2012

Chou Janet, Ohsumi Toshiro K, Geha Raif S

Abstract excerpt

PURPOSE OF REVIEW: This review discusses the strengths and challenges of using whole genome sequencing (WGS)/whole exome sequencing (WES) for identifying novel genetic causes of primary immunodeficiencies. RECENT FINDINGS: WGS permits comprehensive sequencing of introns and exons, whereas WES allows deeper sequencing of exonic regions at a lower cost. Due to the large number of genetic variants found in each...

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Identifiers

PMID: 23095910
DOI: 10.1097/ACI.0b013e3283588ca6

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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