Article

Carrier Screening of 400 Variations Related 11 Recessive Diseases in the Daur Ethnicity in China

2020-12-01

Abstract excerpt

<h4>Background: </h4> Single gene disorders are common diseases that cause birth defect. Carrier screening is an effective method to reduce the affected children with single gene disorders. However, incidence rates and carrier positive rates vary among ethnic groups. <h4>Results: </h4>: In the present study, four hundred alleles associated with 11 recessive disease were detected in the Daur ethnicity of China. Amo...

Topics

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

Identifiers and source

Literature Corpus work: ae8ac664-49af-50f6-8bfb-baf39caed02a
DOI: 10.21203/rs.3.rs-113849/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Carrier Screening of 400 Variations Related 11 Recessive Diseases in the Daur Ethnicity in ChinaDOI 10.21203/rs.3.rs-113849/v1Read

Carrier Frequency and Incidence Estimation of Smith–Lemli–Opitz syndrome in East Asian Populations by Genome Aggregation Database (gnomAD) Based AnalysisSemantic proximity Read

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern ChineseSemantic proximity Read

Concurrent Hearing and Genetic Screening of 18 001 Neonates with Hearing Diagnose in Nantong, ChinaSemantic proximity Read

Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.Semantic proximity Read

Gene Screening for Non-Syndromic Deafness in Hainanese Patients.Semantic proximity Read

Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.Semantic proximity Read

Genetic Screening of a Chinese Cohort of Children with Hearing Loss using a Next-Generation Sequencing PanelSemantic proximity Read

Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.Semantic proximity Read

[Sequencing of 100 common variation sites of 18 deafness susceptibility genes among 16 182 individuals from Dongguan].Semantic proximity Read

Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.Semantic proximity Read

Identification of novel ATRX mutations in Chinese patients with ATRX syndrome related intellectual disability/developmental delaySemantic proximity Read

Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centreSemantic proximity Read