Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

9 Dec 2024

Abstract excerpt

PURPOSE: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome, or panel sequencing data sets aligned to a GRCh37, GRCh38, or T2T reference genome. METHODS: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs. It uses these reads to determine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy and Myosin Studies
Share to Genetic Neurodegenerative Diseases
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39670433
DOI: 10.1016/j.gim.2024.101336

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data setsPMID 39670433Read ↗

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasetsSemantic proximity Read ↗

<em>SMN</em> Profiling in a Turkish Cohort: NGS-Based Tools Uplift Diagnostic Precision and Carrier Detection in Spinal Muscular AtrophySemantic 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 ↗

Analysis of spinal muscular atrophy-like patients by targeted resequencing.Semantic proximity Read ↗

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

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

Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational studySemantic proximity Read ↗

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.Semantic 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 ↗

Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing.Semantic proximity Read ↗

Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing: Assisting Spinal Muscular Atrophy Diagnosis and Carrier Screening.Semantic proximity Read ↗

Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.