Article

Pre-implantation genetic diagnosis for a family with Usher syndrome through targeted sequencing and haplotype analysis

2018-11-05

Abstract excerpt

<h4>Objective</h4> Our objective was to investigate the applicability of targeted capture massively parallel sequencing in developing personalized pre-implantation genetic diagnosis (PGD) assay. <h4>Methods</h4> One couple at risk of transmitting Usher Syndrome to their offspring was recruited to this study. The genomics DNA (gDNA) was extracted from the peripheral blood and underwent in vitro fertilization (IVF...

Topics

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

Identifiers and source

Literature Corpus work: 21dde292-476f-55f2-bd6d-db94c8956e3e
DOI: 10.1101/460378

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pre-implantation genetic diagnosis for a family with Usher syndrome through targeted sequencing and haplotype analysisDOI 10.1101/460378Read

Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.Semantic proximity Read

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

A Novel USH2A Variant in a Patient with Hearing Loss and Prenatal Diagnosis of a Familial Fetus: a Case Report and Literature ReviewSemantic proximity Read

A review of pre-implantation genetic testing technologies and applicationsSemantic proximity Read

Comprehensive preimplantation genetic testing by massively parallel sequencingSemantic proximity Read

Haplotype analysis in Preimplantation Genetic Testing for Special Monogenic Diseases Cases based on Nanopore SequencingSemantic proximity Read

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.Semantic proximity Read

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.Semantic proximity Read

A comprehensive and universal approach for embryo testing in patients with different genetic disorders.Semantic proximity Read

A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditionsSemantic proximity Read

Genotyping single-sperm cells by universal MARSALA enables the acquisition of linkage information for combined pre-implantation genetic diagnosis and genome screening.Semantic proximity Read

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.Semantic proximity Read