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Article

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.

American journal of human genetics - 2 Feb 2023

Chen Xiao, Harting John, Farrow Emily, Thiffault Isabelle, Kasperaviciute Dalia, Hoischen Alexander, Gilissen Christian, Pastinen Tomi, Eberle Michael A

Abstract excerpt

Spinal muscular atrophy, a leading cause of early infant death, is caused by bi-allelic mutations of SMN1. Sequence analysis of SMN1 is challenging due to high sequence similarity with its paralog SMN2. Both genes have variable copy numbers across populations. Furthermore, without pedigree information, it is currently not possible to identify silent carriers (2+0) with two copies of SMN1 on one chromosome and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36669496
DOI: 10.1016/j.ajhg.2023.01.001
PMCID: PMC9943720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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