A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis

AT Marees, H de Kluiver, S Stringer… - … journal of methods …, 2018 - Wiley Online Library
Objectives Genome‐wide association studies (GWAS) have become increasingly popular to
identify associations between single nucleotide polymorphisms (SNPs) and phenotypic …

[HTML][HTML] CpG islands–'a rough guide'

RS Illingworth, AP Bird - FEBS letters, 2009 - Elsevier
Mammalian genomes are punctuated by DNA sequences containing an atypically high
frequency of CpG sites termed CpG islands (CGIs). CGIs generally lack DNA methylation …

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 …

[HTML][HTML] Guidelines for the use of cell lines in biomedical research

RJ Geraghty, A Capes-Davis, JM Davis… - British journal of …, 2014 - nature.com
Cell-line misidentification and contamination with microorganisms, such as mycoplasma,
together with instability, both genetic and phenotypic, are among the problems that continue …

[HTML][HTML] Automated eukaryotic gene structure annotation using EVidenceModeler and the Program to Assemble Spliced Alignments

BJ Haas, SL Salzberg, W Zhu, M Pertea, JE Allen… - Genome biology, 2008 - Springer
EVidenceModeler (EVM) is presented as an automated eukaryotic gene structure annotation
tool that reports eukaryotic gene structures as a weighted consensus of all available …

gEVAL—a web-based browser for evaluating genome assemblies

W Chow, K Brugger, M Caccamo, I Sealy… - …, 2016 - academic.oup.com
Motivation: For most research approaches, genome analyses are dependent on the
existence of a high quality genome reference assembly. However, the local accuracy of an …

[HTML][HTML] Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

Project management: Fulton Lucinda A. 1 Mardis … - Nature, 2004 - nature.com
We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the
chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to …

Filtering of deep sequencing data reveals the existence of abundant Dicer-dependent small RNAs derived from tRNAs

C Cole, A Sobala, C Lu, SR Thatcher, A Bowman… - Rna, 2009 - rnajournal.cshlp.org
Deep sequencing technologies such as Illumina, SOLiD, and 454 platforms have become
very powerful tools in discovering and quantifying small RNAs in diverse organisms …

Highly prevalent putative quadruplex sequence motifs in human DNA

AK Todd, M Johnston, S Neidle - Nucleic acids research, 2005 - academic.oup.com
We report here the results of a systematic search for the existence and prevalence of
potential intramolecular G-quadruplex forming sequences in the human genome. We have …

[HTML][HTML] CNV-seq, a new method to detect copy number variation using high-throughput sequencing

C Xie, MT Tammi - BMC bioinformatics, 2009 - Springer
Background DNA copy number variation (CNV) has been recognized as an important
source of genetic variation. Array comparative genomic hybridization (aCGH) is commonly …