A brief history of bioinformatics

J Gauthier, AT Vincent, SJ Charette… - Briefings in …, 2019 - academic.oup.com
It is easy for today's students and researchers to believe that modern bioinformatics
emerged recently to assist next-generation sequencing data analysis. However, the very …

The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants

PJA Cock, CJ Fields, N Goto, ML Heuer… - Nucleic acids …, 2010 - academic.oup.com
ABSTRACT FASTQ has emerged as a common file format for sharing sequencing read data
combining both the sequence and an associated per base quality score, despite lacking any …

[HTML][HTML] A spectrum of free software tools for processing the VCF variant call format: vcflib, bio-vcf, cyvcf2, hts-nim and slivar

E Garrison, ZN Kronenberg, ET Dawson… - PLoS Computational …, 2022 - journals.plos.org
Since its introduction in 2011 the variant call format (VCF) has been widely adopted for
processing DNA and RNA variants in practically all population studies—as well as in …

[HTML][HTML] The ensembl variant effect predictor

W McLaren, L Gil, SE Hunt, HS Riat, GRS Ritchie… - Genome biology, 2016 - Springer
Abstract The Ensembl Variant Effect Predictor is a powerful toolset for the analysis,
annotation, and prioritization of genomic variants in coding and non-coding regions. It …

[HTML][HTML] Genomes of 13 domesticated and wild rice relatives highlight genetic conservation, turnover and innovation across the genus Oryza

JC Stein, Y Yu, D Copetti, DJ Zwickl, L Zhang… - Nature …, 2018 - nature.com
The genus Oryza is a model system for the study of molecular evolution over time scales
ranging from a few thousand to 15 million years. Using 13 reference genomes spanning the …

[HTML][HTML] Efficient coalescent simulation and genealogical analysis for large sample sizes

J Kelleher, AM Etheridge… - PLoS computational …, 2016 - journals.plos.org
A central challenge in the analysis of genetic variation is to provide realistic genome
simulation across millions of samples. Present day coalescent simulations do not scale well …

A general species delimitation method with applications to phylogenetic placements

J Zhang, P Kapli, P Pavlidis, A Stamatakis - Bioinformatics, 2013 - academic.oup.com
Motivation: Sequence-based methods to delimit species are central to DNA taxonomy,
microbial community surveys and DNA metabarcoding studies. Current approaches either …

[HTML][HTML] Evolutionary genomics of the cold-adapted diatom Fragilariopsis cylindrus

T Mock, RP Otillar, J Strauss, M McMullan, P Paajanen… - Nature, 2017 - nature.com
Abstract The Southern Ocean houses a diverse and productive community of organisms,.
Unicellular eukaryotic diatoms are the main primary producers in this environment, where …

OrganellarGenomeDRAW—a suite of tools for generating physical maps of plastid and mitochondrial genomes and visualizing expression data sets

M Lohse, O Drechsel, S Kahlau… - Nucleic acids research, 2013 - academic.oup.com
Mitochondria and plastids (chloroplasts) are cell organelles of endosymbiotic origin that
possess their own genetic information. Most organellar DNAs map as circular double …

[HTML][HTML] The genome sequence of allopolyploid Brassica juncea and analysis of differential homoeolog gene expression influencing selection

J Yang, D Liu, X Wang, C Ji, F Cheng, B Liu, Z Hu… - Nature …, 2016 - nature.com
The Brassica genus encompasses three diploid and three allopolyploid genomes, but a
clear understanding of the evolution of agriculturally important traits via polyploidy is lacking …