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Article

Scalable detection of technically challenging variants through modified next-generation sequencing.

Molecular genetics & genomic medicine - 1 Dec 2022

Rojahn Susan, Hambuch Tina, Adrian Jessika, Gafni Erik, Gileta Alex, Hatchell Hannah, Johnson Britt, Kallman Ben, Karfilis Kate, Kautzer Curtis, Kennemer Michael, Kirk Lloyd, Kvitek Daniel, Lettes Jessica, Macrae Fenner, Mendez Fernando, Paul Joshua, Pellegrino Maurizio, Preciado Ronny, Risinger Jan, Schultz Matthew, Spurka Lindsay, Swamy Sajani, Truty Rebecca, Usem Nathan, Velenich Andrea, Aradhya Swaroop

Abstract excerpt

BACKGROUND: Some clinically important genetic variants are not easily evaluated with next-generation sequencing (NGS) methods due to technical challenges arising from high- similarity copies (e.g., PMS2, SMN1/SMN2, GBA1, HBA1/HBA2, CYP21A2), repetitive short sequences (e.g., ARX polyalanine repeats, FMR1 AGG interruptions in CGG repeats, CFTR poly-T/TG repeats), and other complexities (e.g., MSH2 Boland...

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Identifiers

PMID: 36251442
DOI: 10.1002/mgg3.2072
PMCID: PMC9747563

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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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