English
Related papers

Related papers: Estimating trans-ancestry genetic correlation with…

200 papers

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

Methodology · Statistics 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

With the recent advent of high-throughput genotyping techniques, genetic data for genome-wide association studies (GWAS) have become increasingly available, which entails the development of efficient and effective statistical approaches.…

Applications · Statistics 2015-02-04 Jiahan Li , Wei Zhong , Runze Li , Rongling Wu

Genome-wide association studies (GWAS) have successfully identified over two hundred thousand genotype-trait associations. Yet some challenges remain. First, complex traits are often associated with many single nucleotide polymorphisms…

Methodology · Statistics 2023-02-07 Aastha Khatiwada , Ayse Selen Yilmaz , Bethany J. Wolf , Maciej Pietrzak , Dongjun Chung

Migrations have played an important role in shaping the genetic diversity of human populations. Understanding genomic data thus requires careful modeling of historical gene flow. Here we consider the effect of relatively recent population…

Populations and Evolution · Quantitative Biology 2012-04-26 Simon Gravel

Rapid advancements in genome sequencing have led to the collection of vast amounts of genomics data. Researchers may be interested in using machine learning models on such data to predict the pathogenicity or clinical significance of a…

Quantitative Methods · Quantitative Biology 2024-08-15 Arshmeet Kaur , Morteza Sarmadi

Genome-wide association studies (GWASs) have been extensively adopted to depict the underlying genetic architecture of complex diseases. Motivated by GWASs' limitations in identifying small effect loci to understand complex traits'…

Methodology · Statistics 2023-10-09 Xinran Qi , Michael E. Belloy , Jiaqi Gu , Xiaoxia Liu , Hua Tang , Zihuai He

In Genome-Wide Association Studies (GWAS) where multiple correlated traits have been measured on participants, a joint analysis strategy, whereby the traits are analyzed jointly, can improve statistical power over a single-trait analysis…

Methodology · Statistics 2018-07-30 Xingjie Shi , Yuling Jiao , Yi Yang , Ching-Yu Cheng , Can Yang , Xinyi Lin , Jin Liu

Biases in observational data of treatments pose a major challenge to estimating expected treatment outcomes in different populations. An important technique that accounts for these biases is reweighting samples to minimize the discrepancy…

Machine Learning · Computer Science 2020-09-14 Michal Ozery-Flato , Pierre Thodoroff , Matan Ninio , Michal Rosen-Zvi , Tal El-Hay

For most diseases, building large databases of labeled genetic data is an expensive and time-demanding task. To address this, we introduce genetic Generative Adversarial Networks (gGAN), a semi-supervised approach based on an innovative GAN…

Machine Learning · Computer Science 2020-07-03 Caio Davi , Ulisses Braga-Neto

When long-lived, balancing selection can lead to trans-species polymorphisms that are shared by two or more species identical by descent. In this case, the gene genealogies at the selected sites cluster by allele instead of by species and,…

Populations and Evolution · Quantitative Biology 2014-01-30 Ziyue Gao , Molly Przeworski , Guy Sella

Collection of genotype data in case-control genetic association studies may often be incomplete for reasons related to genes themselves. This non-ignorable missingness structure, if not appropriately accounted for, can result in…

Methodology · Statistics 2024-07-12 Le Wang , Zhengbang Li , Ben Fitzpatrick , Clarice Weinberg , Jinbo Chen

Genome-Wide Association Studies (GWAS) offer an exciting and promising new research avenue for finding genes for complex diseases. Traditional case-control and cohort studies offer many advantages for such designs. Family-based association…

Methodology · Statistics 2010-10-25 Nan M. Laird , Christoph Lange

Investigating the genetic architecture of complex diseases is challenging due to the multifactorial and interactive landscape of genomic and environmental influences. Although genome-wide association studies (GWAS) have identified thousands…

Genomics · Quantitative Biology 2025-02-12 Burak Yelmen , Maris Alver , Merve Nur Güler , Estonian Biobank Research Team , Flora Jay , Lili Milani

Having a precise knowledge of the dispersal ability of a population in a heterogeneous environment is of critical importance in agroecology and conservation biology as it can provide management tools to limit the effects of pests or to…

Populations and Evolution · Quantitative Biology 2015-03-19 L. Roques , E. Walker , P. Franck , S. Soubeyrand , E. K. Klein

Genome-Wide Association Studies (GWAS) help identify genetic variations in people with diseases such as Parkinson's disease (PD), which are less common in those without the disease. Thus, GWAS data can be used to identify genetic variations…

Genomics · Quantitative Biology 2023-04-07 Ali Amelia , Lourdes Pena-Castillo , Hamid Usefi

The prediction of phenotypic traits using high-density genomic data has many applications such as the selection of plants and animals of commercial interest; and it is expected to play an increasing role in medical diagnostics. Statistical…

Methodology · Statistics 2016-09-29 Marco Scutari , Ian Mackay , David Balding

Many complex disease syndromes such as asthma consist of a large number of highly related, rather than independent, clinical phenotypes, raising a new technical challenge in identifying genetic variations associated simultaneously with…

Machine Learning · Statistics 2008-11-16 Seyoung Kim , Kyung-Ah Sohn , Eric P. Xing

Genome-wide association studies (GWAS) are used to identify relationships between genetic variations and specific traits. When applied to high-dimensional medical imaging data, a key step is to extract lower-dimensional, yet informative…

Quantitative Methods · Quantitative Biology 2023-09-28 Yaochen Xie , Ziqian Xie , Sheikh Muhammad Saiful Islam , Degui Zhi , Shuiwang Ji

In the field of genetics, the concept of heritability refers to the proportion of variations of a biological trait or disease that can be explained by genetic factors. Quantifying the heritability of a disease is a fundamental challenge in…

Statistics Theory · Mathematics 2016-11-10 Anna Bonnet

Machine learning models trained on real-world data may inadvertently make biased predictions that negatively impact marginalized communities. Reweighting, which assigns a weight to each data point used during model training, can mitigate…

Machine Learning · Computer Science 2026-03-20 Anil K. Saini , Jose Guadalupe Hernandez , Emily F. Wong , Debanshi Misra , Tiffani J. Bright , Jason H. Moore