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Modern population genetics studies typically involve genome-wide genotyping of individuals from a diverse network of ancestries. An important, unsolved problem is how to formulate and estimate probabilistic models of observed genotypes that…

Populations and Evolution · Quantitative Biology 2017-01-10 Wei Hao , Minsun Song , John D. Storey

We present an alternative method for genome-wide association studies (GWAS) that is more powerful than the regular GWAS method for locus detection. The regular GWAS method suffers from a substantial multiple-testing burden because of the…

Applications · Statistics 2018-12-19 William Denault , Håkon K. Gjessing , Julius Juodakis , Bo Jacobsson , Astanand Jugessur

Modelling the evolution of a continuous trait in a biological population is one of the oldest problems in evolutionary biology, which led to the birth of quantitative genetics. With the recent development of GWAS methods, it has become…

Probability · Mathematics 2026-04-20 Philibert Courau , Amaury Lambert , Emmanuel Schertzer

Imaging genetic studies aim to find associations between genetic variants and imaging quantitative traits. Traditional genome-wide association studies (GWAS) are based on univariate statistical tests, but when multiple traits are analyzed…

Genomics · Quantitative Biology 2022-04-04 Muhammad Ammar Malik , Alexander S. Lundervold , Tom Michoel

A common sample descriptor in human genomics studies is that of 'genetic ancestry group', with terms such as 'European genetic ancestry' or 'East Asian genetic ancestry' frequently used in publications to describe the genetics of groups of…

Populations and Evolution · Quantitative Biology 2023-01-10 Graham Coop

Collecting genomics data across multiple heterogeneous populations (e.g., across different cancer types) has the potential to improve our understanding of disease. Despite sequencing advances, though, resources often remain a constraint…

Methodology · Statistics 2024-03-05 Yunyi Shen , Lorenzo Masoero , Joshua G. Schraiber , Tamara Broderick

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

Predictive algorithms have a powerful potential to offer benefits in areas as varied as medicine or education. However, these algorithms and the data they use are built by humans, consequently, they can inherit the bias and prejudices…

Human-Computer Interaction · Computer Science 2022-03-22 Cristina Manresa-Yee , Silvia Ramis

Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high throughput genome sequencing technologies is a central challenge faced by human geneticists today. We hypothesize that the variants…

Populations and Evolution · Quantitative Biology 2013-06-18 M. Cyrus Maher , Lawrence H. Uricchio , Dara G. Torgerson , Ryan D. Hernandez

There is an urgent and well-recognized need to extend genetic studies to diverse populations, but several obstacles continue to be prohibitive, including (but not limited to) the difficulty of recruiting individuals from diverse populations…

Populations and Evolution · Quantitative Biology 2021-09-28 Charleston W. K. Chiang

Recurrent mutations are a common phenomenon in population genetics. They may be at the origin of the fixation of a new genotype, if they give a phenotypic advantage to the carriers of the new mutation. In this paper, we are interested in…

Probability · Mathematics 2016-11-28 Charline Smadi

Human society had a long history of suffering from cognitive biases leading to social prejudices and mass injustice. The prevalent existence of cognitive biases in large volumes of historical data can pose a threat of being manifested as…

Computers and Society · Computer Science 2020-07-29 Procheta Sen , Debasis Ganguly

Transcriptome-wide association studies (TWAS) are powerful tools for identifying gene-level associations by integrating genome-wide association studies and gene expression data. However, most TWAS methods focus on linear associations…

Methodology · Statistics 2024-12-10 Tianying Wang , Iuliana Ionita-Laza , Ying Wei

The field of algorithmic fairness has highlighted ethical questions which may not have purely technical answers. For example, different algorithmic fairness constraints are often impossible to satisfy simultaneously, and choosing between…

Computers and Society · Computer Science 2018-03-06 Emma Pierson

When dealing with subjective, noisy, or otherwise nebulous features, the "wisdom of crowds" suggests that one may benefit from multiple judgments of the same feature on the same object. We give theoretically-motivated `feature…

Machine Learning · Computer Science 2013-05-16 Sivan Sabato , Adam Kalai

Genetic nurture effects and assortative mating (AM) occur across many human behaviors and can bias estimates from traditional genetic models. These influences are typically studied univariately, within the same trait. However, estimation of…

Quantitative Methods · Quantitative Biology 2025-10-09 Xuanyu Lyu , Jared Balbona , Tong Chen , Matthew C. Keller

Social contexts -- such as families, schools, and neighborhoods -- shape life outcomes. The key question is not simply whether they matter, but rather for whom and under what conditions. Here, we argue that prediction gaps -- differences in…

Social and Information Networks · Computer Science 2025-07-01 Javier Garcia-Bernardo , Eva Jaspers , Weverthon Machado , Samuel Plach , Erik Jan van Leeuwen

Genetic association analyses often involve data from multiple potentially-heterogeneous subgroups. The expected amount of heterogeneity can vary from modest (e.g., a typical meta-analysis) to large (e.g., a strong gene--environment…

Methodology · Statistics 2014-04-15 Xiaoquan Wen , Matthew Stephens

Many Mendelian randomization (MR) papers have been conducted only in people of European ancestry, limiting transportability of results to the global population. Expanding MR to diverse ancestry groups is essential to ensure equitable…

Genetic association study is an essential step to discover genetic factors that are associated with a complex trait of interest. In this paper we present a novel generalized quasi-likelihood score (GQLS) test that is suitable for a study…

Applications · Statistics 2011-11-24 Zeny Feng , William W. L. Wong , Xin Gao , Flavio Schenkel