The status of the human gene catalogue

P Amaral, S Carbonell-Sala, FM De La Vega, T Faial… - Nature, 2023 - nature.com
Scientists have been trying to identify every gene in the human genome since the initial draft
was published in 2001. In the years since, much progress has been made in identifying …

Transcription regulation by long non-coding RNAs: mechanisms and disease relevance

J Ferrer, N Dimitrova - Nature Reviews Molecular Cell Biology, 2024 - nature.com
Long non-coding RNAs (lncRNAs) outnumber protein-coding transcripts, but their functions
remain largely unknown. In this Review, we discuss the emerging roles of lncRNAs in the …

The UCSC Genome Browser database: 2025 update

G Perez, GP Barber, A Benet-Pages… - Nucleic Acids …, 2025 - academic.oup.com
Abstract The UCSC Genome Browser (https://genome. ucsc. edu) is a widely utilized web-
based tool for visualization and analysis of genomic data, encompassing over 4000 …

Bayesian estimation of gene constraint from an evolutionary model with gene features

T Zeng, JP Spence, H Mostafavi, JK Pritchard - Nature Genetics, 2024 - nature.com
Measures of selective constraint on genes have been used for many applications, including
clinical interpretation of rare coding variants, disease gene discovery and studies of genome …

What can ribo-seq, immunopeptidomics, and proteomics tell us about the noncanonical proteome?

JR Prensner, JG Abelin, LW Kok, KR Clauser… - Molecular & Cellular …, 2023 - ASBMB
Abstract Ribosome profiling (Ribo-Seq) has proven transformative for our understanding of
the human genome and proteome by illuminating thousands of noncanonical sites of …

T2T-YAO: a telomere-to-telomere assembled diploid reference genome for Han Chinese

Y He, Y Chu, S Guo, J Hu, R Li, Y Zheng… - Genomics …, 2023 - academic.oup.com
Since its initial release in 2001, the human reference genome has undergone continuous
improvement in quality, and the recently released telomere-to-telomere (T2T) version—T2T …

kallisto, bustools and kb-python for quantifying bulk, single-cell and single-nucleus RNA-seq

DK Sullivan, KH Min, KE Hjörleifsson, L Luebbert… - Nature …, 2024 - nature.com
The term 'RNA-seq'refers to a collection of assays based on sequencing experiments that
involve quantifying RNA species from bulk tissue, single cells or single nuclei. The kallisto …

CapTrap-seq: a platform-agnostic and quantitative approach for high-fidelity full-length RNA sequencing

S Carbonell-Sala, T Perteghella, J Lagarde… - Nature …, 2024 - nature.com
Long-read RNA sequencing is essential to produce accurate and exhaustive annotation of
eukaryotic genomes. Despite advancements in throughput and accuracy, achieving reliable …

Ensembl 2025

SC Dyer, O Austine-Orimoloye, AG Azov… - Nucleic Acids …, 2025 - academic.oup.com
Abstract Ensembl (www. ensembl. org) is an open platform integrating publicly available
genomics data across the tree of life with a focus on eukaryotic species related to human …

CHESS 3: an improved, comprehensive catalog of human genes and transcripts based on large-scale expression data, phylogenetic analysis, and protein structure

A Varabyou, MJ Sommer, B Erdogdu, I Shinder… - Genome biology, 2023 - Springer
CHESS 3 represents an improved human gene catalog based on nearly 10,000 RNA-seq
experiments across 54 body sites. It significantly improves current genome annotation by …