[HTML][HTML] The era of reference genomes in conservation genomics

G Formenti, K Theissinger, C Fernandes, I Bista… - Trends in ecology & …, 2022 - cell.com
Progress in genome sequencing now enables the large-scale generation of reference
genomes. Various international initiatives aim to generate reference genomes representing …

The Human Pangenome Project: a global resource to map genomic diversity

T Wang, L Antonacci-Fulton, K Howe, HA Lawson… - Nature, 2022 - nature.com
The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …

OrthoDB v11: annotation of orthologs in the widest sampling of organismal diversity

D Kuznetsov, F Tegenfeldt, M Manni… - Nucleic Acids …, 2023 - academic.oup.com
OrthoDB provides evolutionary and functional annotations of genes in a diverse sampling of
eukaryotes, prokaryotes, and viruses. Genomics continues to accelerate our exploration of …

cGAS–STING drives the IL-6-dependent survival of chromosomally instable cancers

C Hong, M Schubert, AE Tijhuis, M Requesens… - Nature, 2022 - nature.com
Chromosomal instability (CIN) drives cancer cell evolution, metastasis and therapy
resistance, and is associated with poor prognosis. CIN leads to micronuclei that release …

Ensembl 2022

F Cunningham, JE Allen, J Allen… - Nucleic acids …, 2022 - academic.oup.com
Abstract Ensembl (https://www. ensembl. org) is unique in its flexible infrastructure for access
to genomic data and annotation. It has been designed to efficiently deliver annotation at …

Multiomics study of nonalcoholic fatty liver disease

G Sveinbjornsson, MO Ulfarsson, RB Thorolfsdottir… - Nature …, 2022 - nature.com
Nonalcoholic fatty liver (NAFL) and its sequelae are growing health problems. We performed
a genome-wide association study of NAFL, cirrhosis and hepatocellular carcinoma, and …

Search and sequence analysis tools services from EMBL-EBI in 2022

F Madeira, M Pearce, ARN Tivey… - Nucleic acids …, 2022 - academic.oup.com
The EMBL-EBI search and sequence analysis tools frameworks provide integrated access to
EMBL-EBI's data resources and core bioinformatics analytical tools. EBI Search …

Evolutionary constraint and innovation across hundreds of placental mammals

MJ Christmas, IM Kaplow, DP Genereux, MX Dong… - Science, 2023 - science.org
Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Q Wang, RS Dhindsa, K Carss, AR Harper, A Nag… - Nature, 2021 - nature.com
Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …

The earth BioGenome project 2020: Starting the clock

HA Lewin, S Richards… - Proceedings of the …, 2022 - National Acad Sciences
November 2020 marked 2 y since the launch of the Earth BioGenome Project (EBP), which
aims to sequence all known eukaryotic species in a 10-y timeframe. Since then, significant …