Alternative splicing as a source of phenotypic diversity

CJ Wright, CWJ Smith, CD Jiggins - Nature Reviews Genetics, 2022 - nature.com
A major goal of evolutionary genetics is to understand the genetic processes that give rise to
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …

[HTML][HTML] How genomics can help biodiversity conservation

K Theissinger, C Fernandes, G Formenti, I Bista… - Trends in Genetics, 2023 - cell.com
The availability of public genomic resources can greatly assist biodiversity assessment,
conservation, and restoration efforts by providing evidence for scientifically informed …

MitoHiFi: a python pipeline for mitochondrial genome assembly from PacBio high fidelity reads

M Uliano-Silva, JGRN Ferreira, K Krasheninnikova… - BMC …, 2023 - Springer
Abstract Background PacBio high fidelity (HiFi) sequencing reads are both long (15–20 kb)
and highly accurate (> Q20). Because of these properties, they have revolutionised genome …

Ensembl 2023

FJ Martin, MR Amode, A Aneja… - Nucleic acids …, 2023 - academic.oup.com
Abstract Ensembl (https://www. ensembl. org) has produced high-quality genomic resources
for vertebrates and model organisms for more than twenty years. During that time, our …

YaHS: yet another Hi-C scaffolding tool

C Zhou, SA McCarthy, R Durbin - Bioinformatics, 2023 - academic.oup.com
We present YaHS, a user-friendly command-line tool for the construction of chromosome-
scale scaffolds from Hi-C data. It can be run with a single-line command, requires minimal …

The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2022 update

Nucleic Acids Research, 2022 - academic.oup.com
Galaxy is a mature, browser accessible workbench for scientific computing. It enables
scientists to share, analyze and visualize their own data, with minimal technical …

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 …

Telomere-to-telomere assembly of diploid chromosomes with Verkko

M Rautiainen, S Nurk, BP Walenz, GA Logsdon… - Nature …, 2023 - nature.com
Abstract The Telomere-to-Telomere consortium recently assembled the first truly complete
sequence of a human genome. To resolve the most complex repeats, this project relied on …

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 …

Protein-to-genome alignment with miniprot

H Li - Bioinformatics, 2023 - academic.oup.com
Motivation Protein-to-genome alignment is critical to annotating genes in non-model
organisms. While there are a few tools for this purpose, all of them were developed over 10 …