Advances in epigenetics link genetics to the environment and disease

G Cavalli, E Heard - Nature, 2019 - nature.com
Epigenetic research has accelerated rapidly in the twenty-first century, generating justified
excitement and hope, but also a degree of hype. Here we review how the field has evolved …

Gene–environment interactions and their impact on human health

SJ Virolainen, A VonHandorf, KCMF Viel… - Genes & …, 2023 - nature.com
The molecular processes underlying human health and disease are highly complex. Often,
genetic and environmental factors contribute to a given disease or phenotype in a non …

An efficient CRISPR–Cas12a promoter editing system for crop improvement

J Zhou, G Liu, Y Zhao, R Zhang, X Tang, L Li, X Jia… - Nature Plants, 2023 - nature.com
Promoter editing represents an innovative approach to introduce quantitative trait variation
(QTV) in crops. However, an efficient promoter editing system for QTV needs to be …

Wilds: A benchmark of in-the-wild distribution shifts

PW Koh, S Sagawa, H Marklund… - International …, 2021 - proceedings.mlr.press
Distribution shifts—where the training distribution differs from the test distribution—can
substantially degrade the accuracy of machine learning (ML) systems deployed in the wild …

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

K Ishigaki, M Akiyama, M Kanai, A Takahashi… - Nature …, 2020 - nature.com
The overwhelming majority of participants in current genetic studies are of European
ancestry. To elucidate disease biology in the East Asian population, we conducted a …

[HTML][HTML] The human transcription factors

SA Lambert, A Jolma, LF Campitelli, PK Das, Y Yin… - Cell, 2018 - cell.com
Transcription factors (TFs) recognize specific DNA sequences to control chromatin and
transcription, forming a complex system that guides expression of the genome. Despite keen …

HOCOMOCO: towards a complete collection of transcription factor binding models for human and mouse via large-scale ChIP-Seq analysis

IV Kulakovskiy, IE Vorontsov, IS Yevshin… - Nucleic acids …, 2018 - academic.oup.com
We present a major update of the HOCOMOCO collection that consists of patterns
describing DNA binding specificities for human and mouse transcription factors. In this …

ggseqlogo: a versatile R package for drawing sequence logos

O Wagih - Bioinformatics, 2017 - academic.oup.com
Sequence logos have become a crucial visualization method for studying underlying
sequence patterns in the genome. Despite this, there remains a scarcity of software …

Identification of non-coding silencer elements and their regulation of gene expression

B Pang, JH van Weerd, FL Hamoen… - … Reviews Molecular Cell …, 2023 - nature.com
Cell type-and differentiation-specific gene expression is precisely controlled by genomic non-
coding regulatory elements (NCREs), which include promoters, enhancers, silencers and …

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

AP Tenney, SA Di Gioia, BD Webb, WM Chan… - Nature …, 2023 - nature.com
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …