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

Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019

Bylstra Yasmin, Kuan Jyn Ling, Lim Weng Khong, Bhalshankar Jaydutt Digambar, Teo Jing Xian, Davila Sonia, Teh Bin Tean, Rozen Steve, Tan Ene-Choo, Liew Wendy Kein Meng, Yeo Khung Keong, Tan Patrick, Saw Seang Mei, Cheng Ching-Yu, Cook Stuart, Foo Roger, Jamuar Saumya Shekhar

Abstract excerpt

PURPOSE: Genomic studies have demonstrated the necessity of ethnicity-specific population data to ascertain variant pathogenicity for disease diagnosis and treatment. This study examined the carrier prevalence of treatable inherited disorders (TIDs), where early diagnosis of at-risk offspring can significantly improve clinical outcomes. METHODS: Existing exome/ genome sequencing data of 831 Singaporeans were...

Read the complete abstract on PubMed

Topics

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

Share to Asia
Share to Ethnicity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Genetic Diseases, Inborn

Share to Genetics, Population

Share to Metagenomics

Share to Precision Medicine

Source

Identifiers

PMID: 29961769
DOI: 10.1038/s41436-018-0008-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.PMID 29961769Read ↗

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

Large-scale whole-genome sequencing of three diverse Asian populations in SingaporeSemantic proximity Read ↗

South Asian Patient Population Genetics Reveal Strong Founder Effects and High Rates of Homozygosity – New Resources for Precision MedicineSemantic proximity Read ↗

SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.Semantic proximity Read ↗

Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.Semantic proximity Read ↗

Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the ChineseSemantic proximity Read ↗

Actionable secondary findings from whole-genome sequencing of 954 East Asians.Semantic proximity Read ↗

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.Semantic proximity Read ↗

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.Semantic proximity Read ↗

Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.Semantic proximity Read ↗

Molecular Epidemiology and Variant Spectrum of Rare Genetic Diseases in the Punjabi Population: A Genomic Perspective from South AsiaSemantic proximity Read ↗

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.Semantic proximity Read ↗

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