Importance of genetic studies of cardiometabolic disease in diverse populations

L Fernández-Rhodes, KL Young, AG Lilly… - Circulation …, 2020 - Am Heart Assoc
Genome-wide association studies have revolutionized our understanding of the genetic
underpinnings of cardiometabolic disease. Yet, the inadequate representation of individuals …

[PDF][PDF] Extensive ethnolinguistic diversity in Vietnam reflects multiple sources of genetic diversity

D Liu, NT Duong, ND Ton, N Van Phong… - Molecular biology …, 2020 - academic.oup.com
Vietnam features extensive ethnolinguistic diversity and occupies a key position in Mainland
Southeast Asia. Yet, the genetic diversity of Vietnam remains relatively unexplored …

PGG.Han: the Han Chinese genome database and analysis platform

Y Gao, C Zhang, L Yuan, YC Ling, X Wang… - Nucleic Acids …, 2020 - academic.oup.com
As the largest ethnic group in the world, the Han Chinese population is nonetheless
underrepresented in global efforts to catalogue the genomic variability of natural …

Hemoglobin E, malaria and natural selection

J Ha, R Martinson, SK Iwamoto… - Evolution, medicine, and …, 2019 - academic.oup.com
It is known that there has been positive natural selection for hemoglobin S and C in humans
despite negative health effects, due to its role in malaria resistance. However, it is not well …

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

N Kausthubham, A Shukla, N Gupta… - Human …, 2021 - Wiley Online Library
Given the genomic uniqueness, a local data set is most desired for Indians, who are
underrepresented in existing public databases. We hypothesize patients with rare …

Risk factors for cutaneous reactions to allopurinol in Kinh Vietnamese: results from a case-control study

MD Do, TP Mai, AD Do, QD Nguyen, NH Le… - Arthritis Research & …, 2020 - Springer
Objective The aim of this study was to investigate risk factors for cutaneous adverse
reactions (CARs) in Kinh Vietnamese. Methods All patients were prospectively recruited in …

Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis

MD Do, DV Pham, LP Le, LH Gia Le… - … journal of laboratory …, 2021 - Wiley Online Library
Introduction Genetic mutations of PROC and PROS1 are well‐known risk factors for deep
venous thrombosis (DVT) in the Asian population. However, the genetic profile of …

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

A Ben-Mahmoud, KR Jun, V Gupta, P Shastri… - Frontiers in Molecular …, 2022 - frontiersin.org
Genome-wide chromosomal microarray is extensively used to detect copy number variations
(CNVs), which can diagnose microdeletion and microduplication syndromes. These small …

Novel findings from family-based exome sequencing for children with biliary atresia

KT Tran, VS Le, LTM Dao, HK Nguyen, AK Mai… - Scientific Reports, 2021 - nature.com
Biliary atresia (BA) is a progressive inflammation and fibrosis of the biliary tree characterized
by the obstruction of bile flow, which results in liver failure, scarring and cirrhosis. This study …

CMDB: the comprehensive population genome variation database of China

Z Li, X Jiang, M Fang, Y Bai, S Liu… - Nucleic acids …, 2023 - academic.oup.com
A high-quality genome variation database derived from a large-scale population is one of
the most important infrastructures for genomics, clinical and translational medicine research …