Redefining fundamental concepts of transcription initiation in bacteria

C Mejía-Almonte, SJW Busby, JT Wade… - Nature Reviews …, 2020 - nature.com
Despite enormous progress in understanding the fundamentals of bacterial gene regulation,
our knowledge remains limited when compared with the number of bacterial genomes and …

Settling the score: variant prioritization and Mendelian disease

K Eilbeck, A Quinlan, M Yandell - Nature Reviews Genetics, 2017 - nature.com
When investigating Mendelian disease using exome or genome sequencing, distinguishing
disease-causing genetic variants from the multitude of candidate variants is a complex …

FlyBase: a guided tour of highlighted features

LS Gramates, J Agapite, H Attrill, BR Calvi… - Genetics, 2022 - academic.oup.com
FlyBase provides a centralized resource for the genetic and genomic data of Drosophila
melanogaster. As FlyBase enters our fourth decade of service to the research community …

COSMIC: a curated database of somatic variants and clinical data for cancer

Z Sondka, NB Dhir, D Carvalho-Silva… - Nucleic Acids …, 2024 - academic.oup.com
Abstract The Catalogue Of Somatic Mutations In Cancer (COSMIC), https://cancer. sanger.
ac. uk/cosmic, is an expert-curated knowledgebase providing data on somatic variants in …

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing …

LC Walker, M de la Hoya, GAR Wiggins, A Lindy… - The American Journal of …, 2023 - cell.com
Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …

Petabase-scale sequence alignment catalyses viral discovery

RC Edgar, B Taylor, V Lin, T Altman, P Barbera… - Nature, 2022 - nature.com
Public databases contain a planetary collection of nucleic acid sequences, but their
systematic exploration has been inhibited by a lack of efficient methods for searching this …

RNAcentral 2021: secondary structure integration, improved sequence search and new member databases

Nucleic acids research, 2021 - academic.oup.com
RNAcentral is a comprehensive database of non-coding RNA (ncRNA) sequences that
provides a single access point to 44 RNA resources and> 18 million ncRNA sequences from …

Rfam 13.0: shifting to a genome-centric resource for non-coding RNA families

I Kalvari, J Argasinska, N Quinones-Olvera… - Nucleic acids …, 2018 - academic.oup.com
The Rfam database is a collection of RNA families in which each family is represented by a
multiple sequence alignment, a consensus secondary structure, and a covariance model. In …

LNCipedia 5: towards a reference set of human long non-coding RNAs

PJ Volders, J Anckaert, K Verheggen… - Nucleic acids …, 2019 - academic.oup.com
While long non-coding RNA (lncRNA) research in the past has primarily focused on the
discovery of novel genes, today it has shifted towards functional annotation of this large …

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer

M Griffith, NC Spies, K Krysiak, JF McMichael… - Nature …, 2017 - nature.com
CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in
Cancer describing the therapeutic, prognostic, diagnostic and predisposing relevance of …