[HTML][HTML] The era of the ARG: an empiricist's guide to ancestral recombination graphs

AL Lewanski, MC Grundler, GS Bradburd - ArXiv, 2023 - ncbi.nlm.nih.gov
In the presence of recombination, the evolutionary relationships between a set of sampled
genomes cannot be described by a single genealogical tree. Instead, the genomes are …

[HTML][HTML] The era of the ARG: An introduction to ancestral recombination graphs and their significance in empirical evolutionary genomics

AL Lewanski, MC Grundler, GS Bradburd - Plos Genetics, 2024 - journals.plos.org
In the presence of recombination, the evolutionary relationships between a set of sampled
genomes cannot be described by a single genealogical tree. Instead, the genomes are …

[HTML][HTML] A general and efficient representation of ancestral recombination graphs

Y Wong, A Ignatieva, J Koskela, G Gorjanc, AW Wohns… - bioRxiv, 2023 - ncbi.nlm.nih.gov
As a result of recombination, adjacent nucleotides can have different paths of genetic
inheritance and therefore the genealogical trees for a sample of DNA sequences vary along …

[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 …

Robust and accurate bayesian inference of genome-wide genealogies for large samples

Y Deng, R Nielsen, YS Song - bioRxiv, 2024 - biorxiv.org
The Ancestral Recombination Graph (ARG), which describes the full genealogical history of
a sample of genomes, is a vital tool in population genomics and biomedical research …

[HTML][HTML] Haplotype Function Score improves biological interpretation and cross-ancestry polygenic prediction of human complex traits

W Song, Y Shi, GN Lin - Elife, 2024 - elifesciences.org
We propose a new framework for human genetic association studies: at each locus, a deep
learning model (in this study, Sei) is used to calculate the functional genomic activity score …

tstrait: a quantitative trait simulator for ancestral recombination graphs

D Tagami, G Bisschop, J Kelleher - Bioinformatics, 2024 - academic.oup.com
Ancestral recombination graphs (ARGs) encode the ensemble of correlated genealogical
trees arising from recombination in a compact and efficient structure, and are of fundamental …

Publicly available privacy-preserving benchmarks for polygenic prediction

MJ Witteveen, EM Pedersen, J Meijsen, MR Andersen… - bioRxiv, 2022 - biorxiv.org
Recently, several new approaches for creating polygenic scores (PGS) have been
developed and this trend shows no sign of abating. However, it has thus far been …

[HTML][HTML] Evidence based on Mendelian randomization: Causal relationship between mitochondrial biological function and lung cancer and its subtypes

K Zhu, J Shi, R Yang, C Zhou, Z Liu - Neoplasia, 2023 - Elsevier
Objective This study aimed to investigate the causal relationship between mitochondrial
biological function and lung cancer, including its subtypes, via MR. Methods SNPs …

[PDF][PDF] Improved Estimation of Functional Enrichment in SNP Heritability Using Feasible Generalized Least Squares

Z Xiong, TQ Thach, YD Zhang, PC Sham - Human Genetics and Genomics …, 2024 - cell.com
Functional enrichment results typically implicate tissue or cell-type specific biological
pathways in disease pathogenesis and as therapeutic targets. We propose generalized …