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The language commonly used in human genetics can inadvertently pose problems for multiple reasons. Terms like "ancestry", "ethnicity", and other ways of grouping people can have complex, often poorly understood, or multiple meanings within…

Populations and Evolution · Quantitative Biology 2021-06-21 Ewan Birney , Michael Inouye , Jennifer Raff , Adam Rutherford , Aylwyn Scally

The use of population descriptors like race, ethnicity, and ancestry in science, medicine and public health has a long, complicated, and at times dark history, particularly for genetics, given the field's perceived importance for…

Other Quantitative Biology · Quantitative Biology 2022-04-25 Madelyn Mauro , Danielle S. Allen , Bege Dauda , Santiago J. Molina , Benjamin M. Neale , Anna C. F. Lewis

It is widely acknowledged that there is a diversity problem in genomics stemming from the vast underrepresentation of non-European genetic ancestry populations. While many challenges exist to address this gap, a major complicating factor is…

Other Quantitative Biology · Quantitative Biology 2022-05-03 Daphne O. Martschenko , Hannah Wand , Jennifer L. Young , Genevieve L. Wojcik

Observed differences in mean phenotypic values across human groups have attracted renewed interest with the rise of large-scale genomic studies and polygenic risk prediction. However, the genetic basis of these differences is far more…

Populations and Evolution · Quantitative Biology 2026-05-25 Nicole Kleman , Meng Lin , Christopher R. Gignoux , Arslan A. Zaidi

What is a population? This review considers how a population may be defined in terms of understanding the structure of the underlying genetics of the individuals involved. The main approach is to consider statistically identifiable groups…

Populations and Evolution · Quantitative Biology 2013-06-05 Daniel John Lawson

Genetic association data from national biobanks and large-scale association studies have provided new prospects for understanding the genetic evolution of complex traits and diseases in humans. In turn, genomes from ancient human…

Populations and Evolution · Quantitative Biology 2021-08-06 Evan K. Irving-Pease , Rasa Muktupavela , Michael Dannemann , Fernando Racimo

The evolutionary edit distance between two individuals in a population, i.e., the amount of applications of any genetic operator it would take the evolutionary process to generate one individual starting from the other, seems like a…

Neural and Evolutionary Computing · Computer Science 2017-05-01 Thomas Gabor , Lenz Belzner

With declining sequencing costs a promising and affordable tool is emerging in cancer diagnostics: genomics. By using association studies, genomic variants that predispose patients to specific cancers can be identified, while by using tumor…

Genomics · Quantitative Biology 2020-04-28 Daniel Mas Montserrat , Arvind Kumar , Carlos Bustamante , Alexander Ioannidis

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

More than any other species, humans form social ties to individuals who are neither kin nor mates, and these ties tend to be with similar people. Here, we show that this similarity extends to genotypes. Across the whole genome, friends'…

Genomics · Quantitative Biology 2014-12-05 Nicholas A. Christakis , James H. Fowler

Understanding the dynamics of genome rearrangements is a major issue of phylogenetics. Phylogenetics is the study of species evolution. A major goal of the field is to establish evolutionary relationships within groups of species, in order…

Data Structures and Algorithms · Computer Science 2014-10-22 Antoine Thomas

Correlation of gene histories in the human genome determines the patterns of genetic variation (haplotype structure) and is crucial to understanding genetic factors in common diseases. We derive closed analytical expressions for the…

Genomics · Quantitative Biology 2009-11-10 A. Eriksson , B. Mehlig

Repetitions within a given genealogical tree provides some information about the degree of consanguineity of a population. They can be analyzed with techniques usually employed in statistical physics when dealing with fixed point…

Statistical Mechanics · Physics 2009-10-31 Paolo De Los Rios , Oscar Pla

Recent advances in high-throughput genomics technologies have resulted in the sequencing of large numbers of (near) complete genomes. These genome sequences are being mined for important functional elements, such as genes. They are also…

Genomics · Quantitative Biology 2007-05-23 Lior Pachter

We consider cross-sectional genetic association studies (common and rare variants) where non-genetic information is available, or feasible to obtain for $N$ individuals, but where it is infeasible to genotype all $N$ individuals. We…

Applications · Statistics 2020-02-06 Thea Bjørnland , Anja Bye , Einar Ryeng , Ulrik Wisløff , Mette Langaas

To uncover the genetic basis of complex disease, individuals are often measured at a large number of genetic variants (usually SNPs) across the genome. GemTools provides computationally efficient tools for modeling genetic ancestry based on…

Applications · Statistics 2011-04-07 Lambertus Klei , Brian P. Kent , Nadine Melhem , Bernie Devlin , Kathryn Roeder

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 data are frequently categorical and have complex dependence structures that are not always well understood. For this reason, clustering and classification based on genetic data, while highly relevant, are challenging statistical…

Methodology · Statistics 2016-06-13 Gabriela Bettella Cybis , Marcio Valk , Silvia Regina Costa Lopes

Traditionally, heritability has been estimated using family-based methods such as twin studies. Advancements in molecular genomics have facilitated the development of alternative methods that utilise large samples of unrelated or related…

This paper describes a methodology for analyzing the evolutionary dynamics of genetic programming (GP) using genealogical information, diversity measures and information about the fitness variation from parent to offspring. We introduce a…

Machine Learning · Computer Science 2021-08-25 Bogdan Burlacu , Michael Affenzeller , Michael Kommenda
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