Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.

doi:10.1002/humu.24469

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Article

Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.

Human mutation - 1 Dec 2022

Savage Sharon A, Jones Kristine, Teshome Kedest, Lori Adriana, McReynolds Lisa J, Niewisch Marena R

Abstract excerpt

Next-generation sequencing (NGS) is a valuable tool, but has limitations in sequencing through repetitive runs of single nucleotides (homopolymers). Pathogenic germline variants in WRAP53 encoding telomere Cajal body protein 1 (TCAB1) are a known cause of dyskeratosis congenita. We identified a significant NGS error in WRAP53, c.1562dup, p.Ala522Glyfs*8 (rs755116516 G>-/GG/GGG) that did not validate by Sanger...

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PMID: 36116037
DOI: 10.1002/humu.24469
PMCID: PMC9771914

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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