[HTML][HTML] DNA methylation: a historical perspective

AL Mattei, N Bailly, A Meissner - Trends in Genetics, 2022 - cell.com
In 1925, 5-methylcytosine was first reported in bacteria. However, its biological importance
was not intuitive for several decades. After this initial lag, the ubiquitous presence of this …

Environmental factors in declining human fertility

NE Skakkebæk, R Lindahl-Jacobsen… - Nature Reviews …, 2022 - nature.com
A severe decline in child births has occurred over the past half century, which will lead to
considerable population declines, particularly in industrialized regions. A crucial question is …

Evolution of the germline mutation rate across vertebrates

LA Bergeron, S Besenbacher, J Zheng, P Li… - Nature, 2023 - nature.com
The germline mutation rate determines the pace of genome evolution and is an evolving
parameter itself. However, little is known about what determines its evolution, as most …

Genomic inference of a severe human bottleneck during the Early to Middle Pleistocene transition

W Hu, Z Hao, P Du, F Di Vincenzo, G Manzi, J Cui… - Science, 2023 - science.org
Population size history is essential for studying human evolution. However, ancient
population size history during the Pleistocene is notoriously difficult to unravel. In this study …

[HTML][HTML] High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

M Byrska-Bishop, US Evani, X Zhao, AO Basile… - Cell, 2022 - cell.com
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …

Somatic mutation landscapes at single-molecule resolution

F Abascal, LMR Harvey, E Mitchell, ARJ Lawson… - Nature, 2021 - nature.com
Somatic mutations drive the development of cancer and may contribute to ageing and other
diseases,. Despite their importance, the difficulty of detecting mutations that are only present …

Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Identification, evaluation, and management of children with autism spectrum disorder

SL Hyman, SE Levy, SM Myers, DZ Kuo, S Apkon… - …, 2020 - publications.aap.org
OBJECTIVE. This study explored parents' perceptions about their child's appearance and
health and evaluated a tool to determine parents' visual perception of their child's weight …

Impact of advanced paternal age on fertility and risks of genetic disorders in offspring

A Kaltsas, E Moustakli, A Zikopoulos, I Georgiou… - Genes, 2023 - mdpi.com
The average age of fathers at first pregnancy has risen significantly over the last decade
owing to various variables, including a longer life expectancy, more access to contraception …

Male infertility

ML Eisenberg, SC Esteves, DJ Lamb… - Nature Reviews …, 2023 - nature.com
Clinical infertility is the inability of a couple to conceive after 12 months of trying. Male factors
are estimated to contribute to 30–50% of cases of infertility. Infertility or reduced fertility can …