Article

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

2026-05-18

Abstract excerpt

<h4>Purpose: </h4> Next-generation sequencing (NGS) is routinely used in the diagnostic workup of neurological diseases, enabling systematic screening for SMA with tailored bioinformatic tools, further enhancing diagnostic speed and accuracy. <h4>Methods:</h4> We leveraged SMNCopyNumberCaller, SMAca, and SMAFinder in our NGS cohort (n = 3493), including 74 MLPA-validated SMA cases (one compound heterozygous) in th...

Topics

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

Identifiers and source

Literature Corpus work: 8850ba86-a979-5610-a150-4c1eb29b71d8
DOI: 10.20944/preprints202605.1147.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<em>SMN</em> Profiling in a Turkish Cohort: NGS-Based Tools Uplift Diagnostic Precision and Carrier Detection in Spinal Muscular AtrophyDOI 10.20944/preprints202605.1147.v1Read

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

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

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

SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.Semantic proximity Read

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

High-throughput screening reveals novel mutations in spinal muscular atrophy patientsSemantic proximity Read

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