GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region
Y Ishikawa, N Tanaka, Y Asano, M Kodera… - Nature …, 2024 - nature.com
Here we report the largest Asian genome-wide association study (GWAS) for systemic
sclerosis performed to date, based on data from Japanese subjects and comprising of 1428 …
sclerosis performed to date, based on data from Japanese subjects and comprising of 1428 …
[PDF][PDF] Cell type-specific and cross-population polygenic risk score analyses of MIR137 gene pathway in schizophrenia
Cell type-specific pathway-based polygenic risk scores (PRSs) may better inform disease
biology and improve the precision of PRS-based clinical prediction. For microRNA-137 …
biology and improve the precision of PRS-based clinical prediction. For microRNA-137 …
Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-specific effects via GAUDI
Polygenic risk scores (PRS) have shown successes in clinics, but most PRS methods have
focused only on individuals with one primary continental ancestry, thus poorly …
focused only on individuals with one primary continental ancestry, thus poorly …
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific …
Background: Predictive performance of polygenic risk scores (PRS) varies across
populations. To facilitate equitable clinical use, we developed PRS for coronary heart …
populations. To facilitate equitable clinical use, we developed PRS for coronary heart …
Liver-specific polygenic risk score is associated with Alzheimer's disease diagnosis
Background: Our understanding of the pathophysiology underlying Alzheimer's disease
(AD) has benefited from genomic analyses, including those that leverage polygenic risk …
(AD) has benefited from genomic analyses, including those that leverage polygenic risk …
Prediction of evolutionary constraint by genomic annotations improves functional prioritization of genomic variants in maize
GP Ramstein, ES Buckler - Genome Biology, 2022 - Springer
Background Crop improvement through cross-population genomic prediction and genome
editing requires identification of causal variants at high resolution, within fewer than …
editing requires identification of causal variants at high resolution, within fewer than …
[PDF][PDF] Power of inclusion: Enhancing polygenic prediction with admixed individuals
Y Tanigawa, M Kellis - The American Journal of Human Genetics, 2023 - cell.com
Admixed individuals offer unique opportunities for addressing limited transferability in
polygenic scores (PGSs), given the substantial trans-ancestry genetic correlation in many …
polygenic scores (PGSs), given the substantial trans-ancestry genetic correlation in many …
Allele frequency differences of causal variants have a major impact on low cross-ancestry portability of PRS
Genome-wide association studies (GWAS) are overwhelmingly biased toward European
ancestries. Nearly all existing studies agree that transferring genetic predictions from …
ancestries. Nearly all existing studies agree that transferring genetic predictions from …
Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations
A Capalbo, G de Wert, H Mertes… - Human …, 2024 - academic.oup.com
BACKGROUND The genetic composition of embryos generated by in vitro fertilization (IVF)
can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited …
can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited …
Biobank-scale methods and projections for sparse polygenic prediction from machine learning
In this paper we characterize the performance of linear models trained via widely-used
sparse machine learning algorithms. We build polygenic scores and examine performance …
sparse machine learning algorithms. We build polygenic scores and examine performance …