[HTML][HTML] The human transcription factors

SA Lambert, A Jolma, LF Campitelli, PK Das, Y Yin… - Cell, 2018 - cell.com
Transcription factors (TFs) recognize specific DNA sequences to control chromatin and
transcription, forming a complex system that guides expression of the genome. Despite keen …

Comparative transcriptomics in human and mouse

A Breschi, TR Gingeras, R Guigó - Nature Reviews Genetics, 2017 - nature.com
Cross-species comparisons of genomes, transcriptomes and gene regulation are now
feasible at unprecedented resolution and throughput, enabling the comparison of human …

Extending support for mouse data in the Molecular Signatures Database (MSigDB)

AS Castanza, JM Recla, D Eby, H Thorvaldsdóttir… - Nature …, 2023 - nature.com
The rise of full transcriptome acquisition technologies has fueled the rapid proliferation of
molecular-level biological data. These large datasets require interpretation beyond the …

Ensembl 2021

KL Howe, P Achuthan, J Allen, J Allen… - Nucleic acids …, 2021 - academic.oup.com
Abstract The Ensembl project (https://www. ensembl. org) annotates genomes and
disseminates genomic data for vertebrate species. We create detailed and comprehensive …

CADD v1. 7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

M Schubach, T Maass, L Nazaretyan… - Nucleic acids …, 2024 - academic.oup.com
Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …

Ensembl 2020

AD Yates, P Achuthan, W Akanni, J Allen… - Nucleic acids …, 2020 - academic.oup.com
Abstract The Ensembl (https://www. ensembl. org) is a system for generating and distributing
genome annotation such as genes, variation, regulation and comparative genomics across …

OrthoFinder: phylogenetic orthology inference for comparative genomics

DM Emms, S Kelly - Genome biology, 2019 - Springer
Here, we present a major advance of the OrthoFinder method. This extends OrthoFinder's
high accuracy orthogroup inference to provide phylogenetic inference of orthologs, rooted …

CADD: predicting the deleteriousness of variants throughout the human genome

P Rentzsch, D Witten, GM Cooper… - Nucleic acids …, 2019 - academic.oup.com
Abstract Combined Annotation-Dependent Depletion (CADD) is a widely used measure of
variant deleteriousness that can effectively prioritize causal variants in genetic analyses …

Ensembl 2019

F Cunningham, P Achuthan, W Akanni… - Nucleic acids …, 2019 - academic.oup.com
Abstract The Ensembl project (https://www. ensembl. org) makes key genomic data sets
available to the entire scientific community without restrictions. Ensembl seeks to be a …

Ensembl 2018

DR Zerbino, P Achuthan, W Akanni… - Nucleic acids …, 2018 - academic.oup.com
The Ensembl project has been aggregating, processing, integrating and redistributing
genomic datasets since the initial releases of the draft human genome, with the aim of …