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Article

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

Journal of clinical immunology - 1 Jan 2017

Engelhardt Karin R, Xu Yaobo, Grainger Angela, Germani Batacchi Mila G C, Swan David J, Willet Joseph D P, Abd Hamid Intan J, Agyeman Philipp, Barge Dawn, Bibi Shahnaz, Jenkins Lucy, Flood Terence J, Abinun Mario, Slatter Mary A, Gennery Andrew R, Cant Andrew J, Santibanez Koref Mauro, Gilmour Kimberly, Hambleton Sophie

Abstract excerpt

PURPOSE: We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). We included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV calling method ExomeDepth to detect gene alterations for which routine Sanger sequencing analysis is not suitable,...

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Identifiers

PMID: 27807805
DOI: 10.1007/s10875-016-0343-9
PMCID: PMC5226981

Provenance

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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