Polygenic Risk Scores Driving Clinical Change in Glaucoma
A Kolovos, MM Hassall, OM Siggs… - Annual Review of …, 2024 - annualreviews.org
Glaucoma is a clinically heterogeneous disease and the world's leading cause of
irreversible blindness. Therapeutic intervention can prevent blindness but relies on early …
irreversible blindness. Therapeutic intervention can prevent blindness but relies on early …
Imputation accuracy across global human populations
Genotype imputation is now fundamental for genome-wide association studies but lacks
fairness due to the underrepresentation of references from non-European ancestries. The …
fairness due to the underrepresentation of references from non-European ancestries. The …
[HTML][HTML] Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes
P Schroeder, R Mandla, A Huerta-Chagoya, A Alkanak… - medRxiv, 2023 - ncbi.nlm.nih.gov
We meta-analyzed array data imputed with the TOPMed reference panel and whole-
genome sequence (WGS) datasets and performed the largest, rare variant (minor allele …
genome sequence (WGS) datasets and performed the largest, rare variant (minor allele …
The predictive capacity of polygenic risk scores for disease risk is only moderately influenced by imputation panels tailored to the target population
Abstract Motivation Polygenic risk scores (PRSs) predict individuals' genetic risk of
developing complex diseases. They summarize the effect of many variants discovered in …
developing complex diseases. They summarize the effect of many variants discovered in …
Assessing HLA imputation accuracy in a West African population
R Nanjala, M Mbiyavanga, S Hashim, S de Villiers… - Plos one, 2023 - journals.plos.org
The Human Leukocyte Antigen (HLA) region plays an important role in autoimmune and
infectious diseases. HLA is a highly polymorphic region and thus difficult to impute. We …
infectious diseases. HLA is a highly polymorphic region and thus difficult to impute. We …
Data Harmonization Guidelines to Combine Multi‐platform Genomic Data from Admixed Populations and Boost Power in Genome‐Wide Association Studies
D Croock, Y Swart, H Schurz, DC Petersen… - Current …, 2024 - Wiley Online Library
Data harmonization involves combining data from multiple independent sources and
processing the data to produce one uniform dataset. Merging separate genotypes or whole …
processing the data to produce one uniform dataset. Merging separate genotypes or whole …
A Genome-Wide Association Study Reveals Novel Genetic Markers Associated with Human African Trypanosomiasis
Trypanosoma brucei gambiense and Trypanosoma brucei rhodesiense cause human
African trypanosomiasis (HAT), a neglected tropical disease that constitutes an important …
African trypanosomiasis (HAT), a neglected tropical disease that constitutes an important …
Beyond Arrays: Leveraging Whole Genome Sequencing to provide insights into Type 1 Diabetes risk in the population
Abstract A Type 1 Diabetes Genetic Risk Score (T1DGRS) aids diagnosis and prediction of
Type 1 Diabetes (T1D). While traditionally derived from imputed array genotypes, Whole …
Type 1 Diabetes (T1D). While traditionally derived from imputed array genotypes, Whole …
Genome-wide analyses for precision medicine in gastrointestinal disorders
LC Tavares - 2023 - bridges.monash.edu
Functional gastrointestinal disorders (FGIDs) impact digestive function and lead to common
symptoms, like abdominal pain. Their causes are multifactorial, but poorly understood …
symptoms, like abdominal pain. Their causes are multifactorial, but poorly understood …