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 …

The technological landscape and applications of single-cell multi-omics

A Baysoy, Z Bai, R Satija, R Fan - Nature Reviews Molecular Cell …, 2023 - nature.com
Single-cell multi-omics technologies and methods characterize cell states and activities by
simultaneously integrating various single-modality omics methods that profile the …

The complete sequence of a human Y chromosome

A Rhie, S Nurk, M Cechova, SJ Hoyt, DJ Taylor… - Nature, 2023 - nature.com
The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …

SCENIC+: single-cell multiomic inference of enhancers and gene regulatory networks

C Bravo González-Blas, S De Winter, G Hulselmans… - Nature …, 2023 - nature.com
Joint profiling of chromatin accessibility and gene expression in individual cells provides an
opportunity to decipher enhancer-driven gene regulatory networks (GRNs). Here we present …

A draft human pangenome reference

WW Liao, M Asri, J Ebler, D Doerr, M Haukness… - Nature, 2023 - nature.com
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …

Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man

F Lopera, C Marino, AS Chandrahas, M O'Hare… - Nature medicine, 2023 - nature.com
We characterized the world's second case with ascertained extreme resilience to autosomal
dominant Alzheimer's disease (ADAD). Side-by-side comparisons of this male case and the …

Systematic discovery of recombinases for efficient integration of large DNA sequences into the human genome

MG Durrant, A Fanton, J Tycko, M Hinks… - Nature …, 2023 - nature.com
Large serine recombinases (LSRs) are DNA integrases that facilitate the site-specific
integration of mobile genetic elements into bacterial genomes. Only a few LSRs, such as …

Transcription factors interact with RNA to regulate genes

O Oksuz, JE Henninger, R Warneford-Thomson… - Molecular cell, 2023 - cell.com
Transcription factors (TFs) orchestrate the gene expression programs that define each cell's
identity. The canonical TF accomplishes this with two domains, one that binds specific DNA …

Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens

JA Morris, C Caragine, Z Daniloski, J Domingo, T Barry… - Science, 2023 - science.org
Most variants associated with complex traits and diseases identified by genome-wide
association studies (GWAS) map to noncoding regions of the genome with unknown effects …

Complementary Alu sequences mediate enhancer–promoter selectivity

L Liang, C Cao, L Ji, Z Cai, D Wang, R Ye, J Chen… - Nature, 2023 - nature.com
Enhancers determine spatiotemporal gene expression programs by engaging with long-
range promoters,,–. However, it remains unknown how enhancers find their cognate …