Genome-wide association studies of cancer: current insights and future perspectives

A Sud, B Kinnersley, RS Houlston - Nature Reviews Cancer, 2017 - nature.com
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

[HTML][HTML] Investigative genetic genealogy: Current methods, knowledge and practice

D Kling, C Phillips, D Kennett, A Tillmar - Forensic Science International …, 2021 - Elsevier
Investigative genetic genealogy (IGG) has emerged as a new, rapidly growing field of
forensic science. We describe the process whereby dense SNP data, commonly comprising …

[HTML][HTML] Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

P Gharahkhani, E Jorgenson, P Hysi… - Nature …, 2021 - nature.com
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-
wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …

[HTML][HTML] Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits

BC Zhang, A Biddanda, ÁF Gunnarsson, F Cooper… - Nature Genetics, 2023 - nature.com
Genome-wide genealogies compactly represent the evolutionary history of a set of genomes
and inferring them from genetic data has the potential to facilitate a wide range of analyses …

Circulating tumour DNA methylation markers for diagnosis and prognosis of hepatocellular carcinoma

R Xu, W Wei, M Krawczyk, W Wang, H Luo, K Flagg… - Nature materials, 2017 - nature.com
An effective blood-based method for the diagnosis and prognosis of hepatocellular
carcinoma (HCC) has not yet been developed. Circulating tumour DNA (ctDNA) carrying …

A method for genome-wide genealogy estimation for thousands of samples

L Speidel, M Forest, S Shi, SR Myers - Nature genetics, 2019 - nature.com
Abstract Knowledge of genome-wide genealogies for thousands of individuals would
simplify most evolutionary analyses for humans and other species, but has remained …

Circulating tumor DNA methylation profiles enable early diagnosis, prognosis prediction, and screening for colorectal cancer

H Luo, Q Zhao, W Wei, L Zheng, S Yi, G Li… - Science translational …, 2020 - science.org
Circulating tumor DNA (ctDNA) has emerged as a useful diagnostic and prognostic
biomarker in many cancers. Here, we conducted a study to investigate the potential use of …

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

EM Weeks, JC Ulirsch, NY Cheng, BL Trippe, RS Fine… - Nature …, 2023 - nature.com
Genome-wide association studies (GWASs) are a valuable tool for understanding the
biology of complex human traits and diseases, but associated variants rarely point directly to …

[HTML][HTML] Sex and gender differences in mental disorders

A Riecher-Rössler - The Lancet Psychiatry, 2017 - thelancet.com
Sex and gender differences in mental disorders are among the most intriguing and stable
findings in psychiatry. For example, differences exist regarding prevalence, symptomatology …

Genome-wide association study using whole-genome sequencing rapidly identifies new genes influencing agronomic traits in rice

K Yano, E Yamamoto, K Aya, H Takeuchi, P Lo, L Hu… - Nature …, 2016 - nature.com
A genome-wide association study (GWAS) can be a powerful tool for the identification of
genes associated with agronomic traits in crop species, but it is often hindered by population …