Within family Mendelian randomization studies

NM Davies, LJ Howe, B Brumpton… - Human Molecular …, 2019 - academic.oup.com
Mendelian randomization (MR) is increasingly used to make causal inferences in a wide
range of fields, from drug development to etiologic studies. Causal inference in MR is …

Population genetics of the coral Acropora millepora: Toward genomic prediction of bleaching

ZL Fuller, VJL Mocellin, LA Morris, N Cantin… - Science, 2020 - science.org
INTRODUCTION Coral reefs worldwide are suffering losses at an alarming rate as a result of
anthropogenic climate change. Increased seawater temperatures, even only slightly above …

Fertility costs of meiotic drivers

SE Zanders, RL Unckless - Current Biology, 2019 - cell.com
In sexual reproduction, opportunities are limited and the stakes are high. This inevitably
leads to conflict. One pervasive conflict occurs within genomes between alternative alleles at …

Crossovers are associated with mutation and biased gene conversion at recombination hotspots

B Arbeithuber, AJ Betancourt, T Ebner… - Proceedings of the …, 2015 - National Acad Sciences
Meiosis is a potentially important source of germline mutations, as sites of meiotic
recombination experience recurrent double-strand breaks (DSBs). However, evidence for a …

A model-based approach for identifying signatures of ancient balancing selection in genetic data

M DeGiorgio, KE Lohmueller, R Nielsen - PLoS genetics, 2014 - journals.plos.org
While much effort has focused on detecting positive and negative directional selection in the
human genome, relatively little work has been devoted to balancing selection. This lack of …

Identifying genetic variants that affect viability in large cohorts

H Mostafavi, T Berisa, FR Day, JRB Perry… - PLoS …, 2017 - journals.plos.org
A number of open questions in human evolutionary genetics would become tractable if we
were able to directly measure evolutionary fitness. As a step towards this goal, we …

An estimate of the average number of recessive lethal mutations carried by humans

Z Gao, D Waggoner, M Stephens, C Ober… - Genetics, 2015 - academic.oup.com
The effects of inbreeding on human health depend critically on the number and severity of
recessive, deleterious mutations carried by individuals. In humans, existing estimates of …

Artifactual mutations resulting from DNA lesions limit detection levels in ultrasensitive sequencing applications

B Arbeithuber, KD Makova, I Tiemann-Boege - Dna Research, 2016 - academic.oup.com
The need in cancer research or evolutionary biology to detect rare mutations or variants
present at very low frequencies (< 10− 5) poses an increasing demand on lowering the …

Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA

SA Langley, KH Miga, GH Karpen, CH Langley - elife, 2019 - elifesciences.org
Despite critical roles in chromosome segregation and disease, the repetitive structure and
vast size of centromeres and their surrounding heterochromatic regions impede studies of …

Transmission ratio distortion: review of concept and implications for genetic association studies

LO Huang, A Labbe, C Infante-Rivard - Human Genetics, 2013 - Springer
Transmission ratio distortion (TRD) occurs when one of the two alleles from either parent is
preferentially transmitted to the offspring. This leads to a statistical departure from the …