Discovery and implications of polygenicity of common diseases

PM Visscher, L Yengo, NJ Cox, NR Wray - Science, 2021 - science.org
The sequencing of the human genome has allowed the study of the genetic architecture of
common diseases: the number of genomic variants that contribute to risk of disease and …

Principles of genome folding into topologically associating domains

Q Szabo, F Bantignies, G Cavalli - Science advances, 2019 - science.org
Understanding the mechanisms that underlie chromosome folding within cell nuclei is
essential to determine the relationship between genome structure and function. The recent …

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 …

Prediction of histone post-translational modification patterns based on nascent transcription data

Z Wang, AG Chivu, LA Choate, EJ Rice, DC Miller… - Nature …, 2022 - nature.com
The role of histone modifications in transcription remains incompletely understood. Here, we
examine the relationship between histone modifications and transcription using …

[HTML][HTML] 3D chromatin structures of mature gametes and structural reprogramming during mammalian embryogenesis

Y Ke, Y Xu, X Chen, S Feng, Z Liu, Y Sun, X Yao, F Li… - Cell, 2017 - cell.com
High-order chromatin structure plays important roles in gene expression regulation.
Knowledge of the dynamics of 3D chromatin structures during mammalian embryo …

Phthalimide conjugation as a strategy for in vivo target protein degradation

GE Winter, DL Buckley, J Paulk, JM Roberts, A Souza… - Science, 2015 - science.org
The development of effective pharmacological inhibitors of multidomain scaffold proteins,
notably transcription factors, is a particularly challenging problem. In part, this is because …

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

KC Akdemir, VT Le, S Chandran, Y Li, RG Verhaak… - Nature …, 2020 - nature.com
Chromatin is folded into successive layers to organize linear DNA. Genes within the same
topologically associating domains (TADs) demonstrate similar expression and histone …

ENCODE data at the ENCODE portal

CA Sloan, ET Chan, JM Davidson… - Nucleic acids …, 2016 - academic.oup.com
Abstract The Encyclopedia of DNA Elements (ENCODE) Project is in its third phase of
creating a comprehensive catalog of functional elements in the human genome. This phase …

The impact of structural variation on human gene expression

C Chiang, AJ Scott, JR Davis, EK Tsang, X Li, Y Kim… - Nature …, 2017 - nature.com
Structural variants (SVs) are an important source of human genetic diversity, but their
contribution to traits, disease and gene regulation remains unclear. We mapped cis …

Nuclear F-actin and myosins drive relocalization of heterochromatic breaks

CP Caridi, C D'Agostino, T Ryu, G Zapotoczny… - Nature, 2018 - nature.com
Heterochromatin mainly comprises repeated DNA sequences that are prone to ectopic
recombination. In Drosophila cells,'safe'repair of heterochromatic double-strand breaks by …