Article

Targeted linked-read sequencing for direct haplotype phasing of parental GJB2/SLC26A4 alleles: A universal and dependable noninvasive prenatal diagnosis method applied to autosomal recessive nonsyndromic hearing loss in at-risk families

2022-12-05

Abstract excerpt

<title>Abstract</title> <p>Background Noninvasive prenatal diagnosis (NIPD) for autosomal recessive nonsyndromic hearing loss (ARNSHL) was rarely reported until recent years. However, previous method would be unavailable without the proband genotype or challenging genome loci(e.g. CNV, deletions, inversions, or gene recombinants). Here, We assess the performance of relative haplotype dosage analysis (RHDO) - bas...

Topics

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

Identifiers and source

Literature Corpus work: 2f55a4f1-8536-5744-96c6-26a30c70a605
DOI: 10.21203/rs.3.rs-2265108/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Targeted linked-read sequencing for direct haplotype phasing of parental GJB2/SLC26A4 alleles: A universal and dependable noninvasive prenatal diagnosis method applied to autosomal recessive nonsyndromic hearing loss in at-risk familiesDOI 10.21203/rs.3.rs-2265108/v1Read

Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.Semantic proximity Read

Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimesterSemantic proximity Read

Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis.Semantic proximity Read

Novel Haplotype-Based Noninvasive Prenatal Diagnosis for Recessive Single-Gene Disorders: A Proof-of-Concept Study.Semantic proximity Read

A capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing loss.Semantic proximity Read

Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy Based on the Direct Haplotype PhasingSemantic proximity Read

Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.Semantic proximity Read

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.Semantic proximity Read

Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.Semantic proximity Read

Non-Invasive Prenatal Diagnosis of Single Gene Disorders with enhanced Relative Haplotype Dosage Analysis for diagnostic implementationSemantic proximity Read

Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.Semantic proximity Read

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.Semantic proximity Read