Long non-coding RNAs: definitions, functions, challenges and recommendations

JS Mattick, PP Amaral, P Carninci… - … reviews Molecular cell …, 2023 - nature.com
Genes specifying long non-coding RNAs (lncRNAs) occupy a large fraction of the genomes
of complex organisms. The term 'lncRNAs' encompasses RNA polymerase I (Pol I), Pol II …

RNA m6A methylation across the transcriptome

E Sendinc, Y Shi - Molecular cell, 2023 - cell.com
Since the early days of foundational studies of nucleic acids, many chemical moieties have
been discovered to decorate RNA and DNA in diverse organisms. In mammalian cells, one …

A genomic mutational constraint map using variation in 76,156 human genomes

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - Nature, 2024 - nature.com
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …

Human topoisomerases and their roles in genome stability and organization

Y Pommier, A Nussenzweig, S Takeda… - … Reviews Molecular Cell …, 2022 - nature.com
Human topoisomerases comprise a family of six enzymes: two type IB (TOP1 and
mitochondrial TOP1 (TOP1MT), two type IIA (TOP2A and TOP2B) and two type IA (TOP3A …

Stroke genetics informs drug discovery and risk prediction across ancestries

A Mishra, R Malik, T Hachiya, T Jürgenson, S Namba… - Nature, 2022 - nature.com
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …

[HTML][HTML] A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …

Genome-wide enhancer maps link risk variants to disease genes

J Nasser, DT Bergman, CP Fulco, P Guckelberger… - Nature, 2021 - nature.com
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that
are associated with human diseases and complex traits, each of which could reveal insights …

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - BioRxiv, 2022 - biorxiv.org
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

[HTML][HTML] Gene regulation by long non-coding RNAs and its biological functions

L Statello, CJ Guo, LL Chen, M Huarte - Nature reviews Molecular cell …, 2021 - nature.com
Evidence accumulated over the past decade shows that long non-coding RNAs (lncRNAs)
are widely expressed and have key roles in gene regulation. Recent studies have begun to …

Genetic mechanisms of critical illness in COVID-19

E Pairo-Castineira, S Clohisey, L Klaric, AD Bretherick… - Nature, 2021 - nature.com
Host-mediated lung inflammation is present, and drives mortality, in the critical illness
caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with …