Back to search

Article

Long-read sequencing identifies copy-specific markers of<i>SMN</i>gene conversion in spinal muscular atrophy

2024-07-16

Abstract excerpt

The complex 2 Mb survival motor neuron (SMN) locus on chromosome 5q13, including the spinal muscular atrophy (SMA)-causing gene SMN1 and modifier SMN2 , remains incompletely resolved due to numerous segmental duplications. Variation in SMN2 copy number, presumably influenced by SMN1 to SMN2 gene conversion, affects disease severity, though SMN2 copy number alone has insufficient prognostic value due to limited gen...

Topics

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

Identifiers and source

Literature Corpus work
74a4ffd6-dd78-5616-9e23-fafb0aafb24b
DOI
10.1101/2024.07.16.24310417
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Long-read sequencing identifies copy-specific markers of<i>SMN</i>gene conversion in spinal muscular atrophyDOI 10.1101/2024.07.16.24310417
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.Semantic proximity
A dual-mode targeted Nanopore sequencing assay for comprehensive<i>SMN1</i>and<i>SMN2</i>variant analysisSemantic proximity
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.Semantic proximity
Comprehensive analysis across<i>SMN2</i>excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophySemantic proximity
Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing: Assisting Spinal Muscular Atrophy Diagnosis and Carrier Screening.Semantic proximity
Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.Semantic proximity
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counselingSemantic proximity
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophySemantic proximity
<i>SMN1</i> copy-number and sequence variant analysis from next generation sequencing dataSemantic proximity
Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.Semantic proximity
Case Report: Resolving a Diagnostic Odyssey in Spinal Muscular Atrophy Using HiFi Long-Read Whole Genome SequencingSemantic proximity
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.Semantic proximity
Select a neighboring publication to make it the new centre.