Article

Comprehensive <i>SMN1</i> and <i>SMN2</i> profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

2022-10-21

Abstract excerpt

Spinal muscular atrophy, a leading cause of early infant death, is caused by biallelic mutations of the SMN1 gene. 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 impossible to identify silent carriers (2+0) with two copies of SMN1 on one chromosome and zer...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: acebbb23-e9f0-5a60-be6d-c176f03b7168
DOI: 10.1101/2022.10.19.512930

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Comprehensive <i>SMN1</i> and <i>SMN2</i> profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencingDOI 10.1101/2022.10.19.512930Read

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

An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis.Semantic proximity Read

<i>SMN1</i> copy-number and sequence variant analysis from next generation sequencing dataSemantic proximity Read

Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes ProjectSemantic proximity Read

Case Report: Resolving a Diagnostic Odyssey in Spinal Muscular Atrophy Using HiFi Long-Read Whole Genome SequencingSemantic proximity Read

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.Semantic proximity Read

HiFi sequencing accurately identifies clinically relevant variants in paralogous genesSemantic proximity Read

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.Semantic proximity Read

A dual-mode targeted Nanopore sequencing assay for comprehensive<i>SMN1</i>and<i>SMN2</i>variant analysisSemantic proximity Read

SMN1 copy‐number and sequence variant analysis from next‐generation sequencing dataSemantic proximity Read

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.Semantic proximity Read

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counselingSemantic proximity Read