Article

Expanded chromosomal microarray comprising screening for spinal muscular atrophy and monogenic diseases3

2024-11-20

Abstract excerpt

<h4>Background</h4> Copy number variants platforms, as critical supports for genetic diagnosis, have been well implemented in prenatal diagnosis. However, numerous severe conditions with underlying single-gene defects are not included in current invasive prenatal screening. To bridge this gap, an expanded chromosomal microarray analysis was developed, employing a meticulous designed single nucleotide polymorphism...

Topics

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

Identifiers and source

Literature Corpus work: 265a165b-81b0-59c9-9f41-ebcb5fa29367
DOI: 10.1101/2024.11.19.24309471

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Expanded chromosomal microarray comprising screening for spinal muscular atrophy and monogenic diseases3DOI 10.1101/2024.11.19.24309471Read

Clinical utility of an expanded chromosomal microarray comprising spinal muscular atrophy screening: A prospective study in high‐risk pregnanciesSemantic proximity Read

The role of chromosomal microarray and exome sequencing in prenatal diagnosisSemantic proximity Read

Potentials and challenges of chromosomal microarray analysis in prenatal diagnosisSemantic proximity Read

Committee Opinion No.682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and GynecologySemantic proximity Read

Analytical and Clinical Validity Study of FirstStep <sup>Dx</sup> PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental ConditionsSemantic proximity Read

Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?Semantic proximity Read

Social and medical need for whole genome high resolution NIPTSemantic proximity Read

Detection of submicroscopic chromosomal aberrations by chromosomal microarray analysis for the prenatal diagnosis of central nervous system abnormalitiesSemantic proximity Read

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.Semantic proximity Read

Novel applications of array comparative genomic hybridization in molecular diagnostics.Semantic proximity Read

Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.Semantic proximity Read

The impact of human copy number variation on a new era of genetic testingSemantic proximity Read