Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders

2 Jun 2021

Abstract excerpt

Autosomal recessive (AR) disorders pose a significant burden for public health. However, despite their clinical importance, epidemiology and molecular genetics of many AR diseases remain poorly characterized. Here, we analyzed the genetic variability of 508 genes associated with AR disorders based on sequencing data from 141,456 individuals across seven ethnogeographic groups by integrating variants with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cystic Fibrosis Research Advances
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34078906
DOI: 10.1038/s41525-021-00203-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disordersPMID 34078906Read ↗

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.Semantic proximity Read ↗

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effectsSemantic proximity Read ↗

Using large-scale population-based data to improve disease risk assessment of clinical variants.Semantic proximity Read ↗

Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.Semantic proximity Read ↗

Unique roles of rare variants in the genetics of complex diseases in humans.Semantic proximity Read ↗

Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSemantic proximity Read ↗

Inherited burden for disease predisposition in diverse populationsSemantic proximity Read ↗

Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening.Semantic proximity Read ↗

Effective variant filtering and expected candidate variant yield in studies of rare human diseaseSemantic proximity Read ↗

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.Semantic proximity Read ↗

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.Semantic proximity Read ↗

The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.