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 …

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 …

Hyenadna: Long-range genomic sequence modeling at single nucleotide resolution

E Nguyen, M Poli, M Faizi, A Thomas… - Advances in neural …, 2024 - proceedings.neurips.cc
Genomic (DNA) sequences encode an enormous amount of information for gene regulation
and protein synthesis. Similar to natural language models, researchers have proposed …

Nucleotide Transformer: building and evaluating robust foundation models for human genomics

H Dalla-Torre, L Gonzalez, J Mendoza-Revilla… - Nature …, 2024 - nature.com
The prediction of molecular phenotypes from DNA sequences remains a longstanding
challenge in genomics, often driven by limited annotated data and the inability to transfer …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

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 …

Integrated lncRNA function upon genomic and epigenomic regulation

AB Herman, D Tsitsipatis, M Gorospe - Molecular Cell, 2022 - cell.com
Although some long noncoding (lnc) RNAs are known since the 1950s, the past 25 years
have uncovered myriad lncRNAs with diverse sequences, structures, and functions. The …

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 …

Targeting RNA structures with small molecules

JL Childs-Disney, X Yang, QMR Gibaut… - Nature Reviews Drug …, 2022 - nature.com
RNA adopts 3D structures that confer varied functional roles in human biology and
dysfunction in disease. Approaches to therapeutically target RNA structures with small …

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 …