What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics
AM Musolf, ER Holzinger, JD Malley, JE Bailey-Wilson - Human Genetics, 2022 - Springer
Genetic data have become increasingly complex within the past decade, leading
researchers to pursue increasingly complex questions, such as those involving epistatic …
researchers to pursue increasingly complex questions, such as those involving epistatic …
Accurate detection of identity-by-descent segments in human ancient DNA
Long DNA segments shared between two individuals, known as identity-by-descent (IBD),
reveal recent genealogical connections. Here we introduce ancIBD, a method for identifying …
reveal recent genealogical connections. Here we introduce ancIBD, a method for identifying …
Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits
BC Zhang, A Biddanda, ÁF Gunnarsson, F Cooper… - Nature Genetics, 2023 - nature.com
Genome-wide genealogies compactly represent the evolutionary history of a set of genomes
and inferring them from genetic data has the potential to facilitate a wide range of analyses …
and inferring them from genetic data has the potential to facilitate a wide range of analyses …
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data
Analyses of data from genome-wide association studies on unrelated individuals have
shown that, for human traits and diseases, approximately one-third to two-thirds of …
shown that, for human traits and diseases, approximately one-third to two-thirds of …
An overview of the use of genotyping techniques for assessing genetic diversity in local farm animal breeds
A Olschewsky, D Hinrichs - Animals, 2021 - mdpi.com
Simple Summary The number of local farm animal breeds is declining worldwide. However,
these breeds have different degrees of genetic diversity. Measuring genetic diversity is …
these breeds have different degrees of genetic diversity. Measuring genetic diversity is …
Demographic history mediates the effect of stratification on polygenic scores
AA Zaidi, I Mathieson - Elife, 2020 - elifesciences.org
Population stratification continues to bias the results of genome-wide association studies
(GWAS). When these results are used to construct polygenic scores, even subtle biases can …
(GWAS). When these results are used to construct polygenic scores, even subtle biases can …
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses
Exome association studies to date have generally been underpowered to systematically
evaluate the phenotypic impact of very rare coding variants. We leveraged extensive …
evaluate the phenotypic impact of very rare coding variants. We leveraged extensive …
Rare genetic variants explain missing heritability in smoking
Common genetic variants explain less variation in complex phenotypes than inferred from
family-based studies, and there is a debate on the source of this 'missing heritability'. We …
family-based studies, and there is a debate on the source of this 'missing heritability'. We …
Strong positive selection biases identity-by-descent-based inferences of recent demography and population structure in Plasmodium falciparum
Malaria genomic surveillance often estimates parasite genetic relatedness using metrics
such as Identity-By-Decent (IBD), yet strong positive selection stemming from antimalarial …
such as Identity-By-Decent (IBD), yet strong positive selection stemming from antimalarial …
Direct detection of natural selection in Bronze Age Britain
I Mathieson, J Terhorst - Genome Research, 2022 - genome.cshlp.org
We developed a novel method for efficiently estimating time-varying selection coefficients
from genome-wide ancient DNA data. In simulations, our method accurately recovers …
from genome-wide ancient DNA data. In simulations, our method accurately recovers …