SNP Allocation For Estimating Heritability (SAFE-h2): A tool to explore genomic origins of phenotypes for estimation of SNP heritability using additive-only allelic …

B Darbani, M Nicolaisen - bioRxiv, 2023 - biorxiv.org
SNP heritability is a marked indication for genetic gains. Extreme polygenicity, ie., small
effect-size causal SNPs, dictates as many SNPs as possible to be involved in heritability …

What's UPDOG? A novel tool for trans-ancestral polygenic score prediction

DM Howard, O Pain, AC Gillett, E Vassos, CM Lewis - medRxiv, 2023 - medrxiv.org
Polygenic scores provide an indication of an individual's genetic propensity for a trait within
a test population. These scores are calculated using results from genetic analysis conducted …

[PDF][PDF] Influence of autozygosity on common disease risk across the phenotypic spectrum

DS Malawsky, E van Walree, BM Jacobs, TH Heng… - Cell, 2023 - cell.com
Autozygosity is associated with rare Mendelian disorders and clinically relevant quantitative
traits. We investigated associations between the fraction of the genome in runs of …

Integrating genome-wide association study with a multi-tissue transcriptome analysis provides insights into the genetic architecture of teat traits in pigs

C Wei, X Cai, S Diao, J Teng, Z Xu… - Journal of genetics …, 2023 - pubmed.ncbi.nlm.nih.gov
Integrating genome-wide association study with a multi-tissue transcriptome analysis provides
insights into the genetic architecture of teat traits in pigs Integrating genome-wide association …

Dispensing with unnecessary assumptions in population genetics analysis

OL Pabet, K Tetley-Campbell, M Van Der Laan… - bioRxiv, 2022 - biorxiv.org
Parametric assumptions in population genetics analysis–including linearity, sources of
population stratification and the gaussianity and additivity of errors–are often made, yet a …

Mendelian Randomization Analysis Revealed Pan-Effect of Smoking Instead of Alcohol Consumption on 24 Gastrointestinal Diseases

S Yuan, J Chen, X Ruan, Y Sun, K Zhang… - Available at SSRN … - papers.ssrn.com
Background: Whether the positive associations of smoking and alcohol consumption with
gastrointestinal diseases are causal is uncertain. We conducted this Mendelian …

[图书][B] Genetics and biomarkers of frailty: towards individualized management of the frailty syndrome

KLJ Mak - 2023 - openarchive.ki.se
Frailty is an age-related, dynamic state of multisystem physiological decline and is a strong
predictor of disability and mortality. To move towards an individualized management of …

[图书][B] Statistical Machine Learning for Reliable Hypothesis Generation in Biomedical Problems

T Tang - 2023 - search.proquest.com
Given the ever-growing volume and variety of biomedical data, principled analyses of these
rich datasets offer an exciting opportunity to accelerate the scientific discovery process …

A Clinical and Genetic Analysis of Alloimmunization in Chronically Transfused Sickle Cell Disease Patients

VR Brooks - 2023 - search.proquest.com
Sickle cell disease (SCD) is the most common genetic disease in the United States. It is
caused by mutation of the HBB gene, which produces rigid, abnormally shaped red blood …

Computational analysis of effects and interactions among human variants in complex diseases

S Valentini - 2022 - iris.unitn.it
In the last years, Genome-Wide Associations Studies (GWAS) found many variants
associated with complex diseases. However, the biological and molecular links between …