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 …
underpinnings of cardiometabolic disease. Yet, the inadequate representation of individuals …
[PDF][PDF] Extensive ethnolinguistic diversity in Vietnam reflects multiple sources of genetic diversity
Vietnam features extensive ethnolinguistic diversity and occupies a key position in Mainland
Southeast Asia. Yet, the genetic diversity of Vietnam remains relatively unexplored …
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 …
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 …
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 …
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
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 …
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
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 …
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 …
(CNVs), which can diagnose microdeletion and microduplication syndromes. These small …
Novel findings from family-based exome sequencing for children with biliary atresia
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 …
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
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 …
the most important infrastructures for genomics, clinical and translational medicine research …