DNA sequencing at 40: past, present and future

J Shendure, S Balasubramanian, GM Church… - Nature, 2017‏ - nature.com
This review commemorates the 40th anniversary of DNA sequencing, a period in which we
have already witnessed multiple technological revolutions and a growth in scale from a few …

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation …

PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017‏ - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …

Evolution of the germline mutation rate across vertebrates

LA Bergeron, S Besenbacher, J Zheng, P Li… - Nature, 2023‏ - nature.com
The germline mutation rate determines the pace of genome evolution and is an evolving
parameter itself. However, little is known about what determines its evolution, as most …

BlobToolKit–interactive quality assessment of genome assemblies

R Challis, E Richards, J Rajan… - G3: Genes …, 2020‏ - academic.oup.com
Reconstruction of target genomes from sequence data produced by instruments that are
agnostic as to the species-of-origin may be confounded by contaminant DNA. Whether …

[کتاب][B] tRNAscan-SE: searching for tRNA genes in genomic sequences

PP Chan, TM Lowe - 2019‏ - Springer
Transfer RNAs are the largest, most complex non-coding RNA family, universal to all living
organisms. tRNAscan-SE has been the de facto tool for predicting tRNA genes in whole …

tRNAscan-SE 2.0: improved detection and functional classification of transfer RNA genes

PP Chan, BY Lin, AJ Mak, TM Lowe - Nucleic acids research, 2021‏ - academic.oup.com
Abstract tRNAscan-SE has been widely used for transfer RNA (tRNA) gene prediction for
over twenty years, developed just as the first genomes were decoded. With the massive …

The Ensembl gene annotation system

BL Aken, S Ayling, D Barrell, L Clarke, V Curwen… - Database, 2016‏ - academic.oup.com
The Ensembl gene annotation system has been used to annotate over 70 different
vertebrate species across a wide range of genome projects. Furthermore, it generates the …

A SARS-CoV-2 targeted siRNA-nanoparticle therapy for COVID-19

A Idris, A Davis, A Supramaniam, D Acharya, G Kelly… - Molecular Therapy, 2021‏ - cell.com
Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome
coronavirus 2 (SARS-CoV-2) infection in humans. Despite several emerging vaccines, there …

Rodent models in neuroscience research: is it a rat race?

B Ellenbroek, J Youn - Disease models & mechanisms, 2016‏ - journals.biologists.com
Rodents (especially Mus musculus and Rattus norvegicus) have been the most widely used
models in biomedical research for many years. A notable shift has taken place over the last …

The long noncoding RNA Malat1: Its physiological and pathophysiological functions

X Zhang, MH Hamblin, KJ Yin - RNA biology, 2017‏ - Taylor & Francis
Recent studies suggest that in humans, DNA sequences responsible for protein coding
regions comprise only 2% of the total genome. The rest of the transcripts result in RNA …