Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

The genetic epidemiology of prostate cancer and its clinical implications

R Eeles, C Goh, E Castro, E Bancroft, M Guy… - Nature reviews …, 2014 - nature.com
Worldwide, familial and epidemiological studies have generated considerable evidence of
an inherited component to prostate cancer. Indeed, rare highly penetrant genetic mutations …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

Causal relationship between gut microbiota and cancers: a two-sample Mendelian randomisation study

Y Long, L Tang, Y Zhou, S Zhao, H Zhu - BMC medicine, 2023 - Springer
Background Evidence from observational studies and clinical trials suggests that the gut
microbiota is associated with cancer. However, the causal association between gut …

Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese

CY Wei, JH Yang, EC Yeh, MF Tsai, HJ Kao… - NPJ genomic …, 2021 - nature.com
Personalized medical care focuses on prediction of disease risk and response to
medications. To build the risk models, access to both large-scale genomic resources and …

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

A Mahajan, J Wessel, SM Willems, W Zhao… - Nature …, 2018 - nature.com
We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls
of diverse ancestry, identifying 40 coding variant association signals (P< 2.2× 10− 7); of …

A large electronic-health-record-based genome-wide study of serum lipids

TJ Hoffmann, E Theusch, T Haldar, DK Ranatunga… - Nature …, 2018 - nature.com
A genome-wide association study (GWAS) of 94,674 ancestrally diverse Kaiser Permanente
members using 478,866 longitudinal electronic health record (EHR)-derived measurements …

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation

TJ Hoffmann, GB Ehret, P Nandakumar, D Ranatunga… - Nature …, 2017 - nature.com
Longitudinal electronic health records on 99,785 Genetic Epidemiology Research on Adult
Health and Aging (GERA) cohort individuals provided 1,342,814 systolic and diastolic blood …

The Korea Biobank Array: design and identification of coding variants associated with blood biochemical traits

S Moon, YJ Kim, S Han, MY Hwang, DM Shin… - Scientific reports, 2019 - nature.com
We introduce the design and implementation of a new array, the Korea Biobank Array
(referred to as KoreanChip), optimized for the Korean population and demonstrate findings …

Efficient haplotype matching and storage using the positional Burrows–Wheeler transform (PBWT)

R Durbin - Bioinformatics, 2014 - academic.oup.com
Motivation: Over the last few years, methods based on suffix arrays using the Burrows–
Wheeler Transform have been widely used for DNA sequence read matching and assembly …