An overview of deep generative models in functional and evolutionary genomics

B Yelmen, F Jay - Annual Review of Biomedical Data Science, 2023 - annualreviews.org
Following the widespread use of deep learning for genomics, deep generative modeling is
also becoming a viable methodology for the broad field. Deep generative models (DGMs) …

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 …

Challenges and applications in generative AI for clinical tabular data in physiology

C Umesh, M Mahendra, S Bej, O Wolkenhauer… - … -European Journal of …, 2024 - Springer
Recent advancements in generative approaches in AI have opened up the prospect of
synthetic tabular clinical data generation. From filling in missing values in real-world data …

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 …

Synthetic data can aid the analysis of clinical outcomes: How much can it be trusted?

D Adam - Proceedings of the National Academy of Sciences, 2024 - pnas.org
In 1997, then-governor of Massachusetts Bill Weld received a nasty surprise in the mail: his
medical records, sent by computer scientist Latanya Sweeney. It was a stunt to demonstrate …

A benchmark study on current GWAS models in admixed populations

Z Yang, B Cieza, D Reyes-Dumeyer… - Briefings in …, 2024 - academic.oup.com
Objective The performances of popular genome-wide association study (GWAS) models
have not been examined yet in a consistent manner under the scenario of genetic …

Towards creating longer genetic sequences with GANs: Generation in principal component space

A Szatkownik, C Furtlehner… - Machine Learning …, 2024 - proceedings.mlr.press
Synthetic data generation via generative modeling has recently become a prominent
research field in genomics, with applications ranging from functional sequence design to …

A resampling-based approach to share reference panels

T Cavinato, S Rubinacci, AS Malaspinas… - Nature Computational …, 2024 - nature.com
For many genome-wide association studies, imputing genotypes from a haplotype reference
panel is a necessary step. Over the past 15 years, reference panels have become larger and …

Genetic fine-mapping from summary data using a nonlocal prior improves the detection of multiple causal variants

V Karhunen, I Launonen, MR Järvelin, S Sebert… - …, 2023 - academic.oup.com
Motivation Genome-wide association studies (GWAS) have been successful in identifying
genomic loci associated with complex traits. Genetic fine-mapping aims to detect …

Generating Synthetic Genotypes using Diffusion Models

P Kenneweg, R Dandinasivara, X Luo… - arXiv preprint arXiv …, 2024 - arxiv.org
In this paper, we introduce the first diffusion model designed to generate complete synthetic
human genotypes, which, by standard protocols, one can straightforwardly expand into full …