A tutorial on statistical methods for population association studies
DJ Balding - Nature reviews genetics, 2006 - nature.com
Although genetic association studies have been with us for many years, even for the
simplest analyses there is little consensus on the most appropriate statistical procedures …
simplest analyses there is little consensus on the most appropriate statistical procedures …
Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence
B Zhang, A Beeghly-Fadiel, J Long, W Zheng - The lancet oncology, 2011 - thelancet.com
Background More than 1000 reports have been published in the past two decades on
associations between variants in candidate genes and risk of breast cancer. Results have …
associations between variants in candidate genes and risk of breast cancer. Results have …
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …
genome sequencing (WGS) data consented for public distribution without access or use …
Genetic mechanisms of critical illness in COVID-19
Host-mediated lung inflammation is present, and drives mortality, in the critical illness
caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with …
caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with …
Jasmine and Iris: population-scale structural variant comparison and analysis
The availability of long reads is revolutionizing studies of structural variants (SVs). However,
because SVs vary across individuals and are discovered through imprecise read …
because SVs vary across individuals and are discovered through imprecise read …
Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer
To identify new susceptibility loci to lung cancer among diverse populations, we performed
cross-ancestry genome-wide association studies in European, East Asian and African …
cross-ancestry genome-wide association studies in European, East Asian and African …
The first horse herders and the impact of early Bronze Age steppe expansions into Asia
P de Barros Damgaard, R Martiniano, J Kamm… - Science, 2018 - science.org
INTRODUCTION According to the commonly accepted “steppe hypothesis,” the initial
spread of Indo-European (IE) languages into both Europe and Asia took place with …
spread of Indo-European (IE) languages into both Europe and Asia took place with …
Second-generation PLINK: rising to the challenge of larger and richer datasets
Background PLINK 1 is a widely used open-source C/C++ toolset for genome-wide
association studies (GWAS) and research in population genetics. However, the steady …
association studies (GWAS) and research in population genetics. However, the steady …
Calculating polygenic risk scores (PRS) in UK Biobank: a practical guide for epidemiologists
A polygenic risk score estimates the genetic risk of an individual for some disease or trait,
calculated by aggregating the effect of many common variants associated with the condition …
calculated by aggregating the effect of many common variants associated with the condition …
The MBOAT7-TMC4 variant rs641738 increases risk of nonalcoholic fatty liver disease in individuals of European descent
Background & Aims Nonalcoholic fatty liver disease (NAFLD) is a leading cause of liver
damage and is characterized by steatosis. Genetic factors increase risk for progressive …
damage and is characterized by steatosis. Genetic factors increase risk for progressive …