Short-term genome stability of serial Clostridium difficile ribotype 027 isolates in an experimental gut model and recurrent human disease [PDF]
, 2013 Copyright: © 2013 Eyre et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
Baines, Simon D. +10 more
core +9 more sources
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease [PDF]
, 2017 Context.-With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing.
Ferreira-Gonzalez, Andrea +5 more
core +3 more sources
Direct Whole-Genome Sequencing of Cutaneous Strains of Haemophilus ducreyi. [PDF]
, 2018 Haemophilus ducreyi, which causes chancroid, has emerged as a cause of pediatric skin disease. Isolation of H. ducreyi in low-income settings is challenging, limiting phylogenetic investigation.
Fookes, Maria +8 more
core +1 more source
Linear-Time Superbubble Identification Algorithm for Genome Assembly [PDF]
, 2015 DNA sequencing is the process of determining the exact order of the nucleotide bases of an individual's genome in order to catalogue sequence variation and understand its biological implications.
Brankovic, Ljiljana +5 more
core +2 more sources
Exploring genome wide bisulfite sequencing for DNA methylation analysis in livestock: a technical assessment [PDF]
, 2014 peer-reviewedRecent advances made in “omics” technologies are contributing to a revolution in livestock selection and breeding practices. Epigenetic mechanisms, including DNA methylation are important determinants for the control of gene expression in ...
Couldrey, Christine, Doherty, Rachael
core +4 more sources
Genomic dissection of the 1994 Cronobacter sakazakii outbreak in a French neonatal intensive care unit [PDF]
, 2015 Background: Cronobacter sakazakii is a member of the genus Cronobacter that has frequently been isolated from powdered infant formula (PIF) and linked with rare but fatal neonatal infections such as meningitis and necrotising enterocolitis.
Dickins, B +6 more
core +2 more sources
Single-molecule real-time sequencing combined with optical mapping yields completely finished fungal genome [PDF]
, 2015 Next-generation sequencing (NGS) technologies have increased the scalability, speed, and resolution of genomic sequencing and, thus, have revolutionized genomic studies.
Datema, Erwin +6 more
core +2 more sources
Combined burden and functional impact tests for cancer driver discovery using DriverPower [PDF]
, 2020 The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across ...
Deu-Pons, Jordi +10 more
core +3 more sources
Whole Genome Sequencing in Cancer Clinics
EBioMedicine, 2015 Patients with a family history of cancer are being evaluated with single-gene or gene panel tests (LaDuca et al., 2014). The decreasing cost and potential to provide comprehensive genetic risk assessment makes whole genome sequencing (WGS) an attractive tool for understanding the genetic risk for cancer (Collins and Hamburg, 2013).
Ken Chen, Funda Meric-Bernstam
openaire +4 more sources
Whole-genome sequencing and the clinician: a tale of two cities [PDF]
, 2014 Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing.
A. R. Foley +21 more
core +2 more sources