[HTML][HTML] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …
European descent, but it is essential that diverse populations become better represented …
Methods of integrating data to uncover genotype–phenotype interactions
MD Ritchie, ER Holzinger, R Li… - Nature Reviews …, 2015 - nature.com
Recent technological advances have expanded the breadth of available omic data, from
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic …
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic …
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …
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 …
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
Candidate gene and genome-wide association studies (GWAS) have identified genetic
variants that modulate risk for human disease; many of these associations require further …
variants that modulate risk for human disease; many of these associations require further …
Contrasting the genetic architecture of 30 complex traits from summary association data
Variance-component methods that estimate the aggregate contribution of large sets of
variants to the heritability of complex traits have yielded important insights into the genetic …
variants to the heritability of complex traits have yielded important insights into the genetic …
Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations
MG Hayes, M Urbanek, DA Ehrmann… - Nature …, 2015 - nature.com
Polycystic ovary syndrome (PCOS) is a common, highly heritable complex disorder of
unknown aetiology characterized by hyperandrogenism, chronic anovulation and defects in …
unknown aetiology characterized by hyperandrogenism, chronic anovulation and defects in …
FastUniq: A Fast De Novo Duplicates Removal Tool for Paired Short Reads
H Xu, X Luo, J Qian, X Pang, J Song, G Qian, J Chen… - PloS one, 2012 - journals.plos.org
The presence of duplicates introduced by PCR amplification is a major issue in paired short
reads from next-generation sequencing platforms. These duplicates might have a serious …
reads from next-generation sequencing platforms. These duplicates might have a serious …
A genome-wide association study of resistance to stripe rust (Puccinia striiformis f. sp. tritici) in a worldwide collection of hexaploid spring wheat (Triticum aestivum L.)
New races of Puccinia striiformis f. sp. tritici (Pst), the causal pathogen of wheat stripe rust,
show high virulence to previously deployed resistance genes and are responsible for large …
show high virulence to previously deployed resistance genes and are responsible for large …
[HTML][HTML] Secondary use of clinical data: the Vanderbilt approach
The last decade has seen an exponential growth in the quantity of clinical data collected
nationwide, triggering an increase in opportunities to reuse the data for biomedical research …
nationwide, triggering an increase in opportunities to reuse the data for biomedical research …