Results 41 to 50 of about 486,445 (166)

Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma

npj Genomic Medicine, 2017
Aberrant genetic and epigenetic variations drive malignant transformation and are hallmarks of cancer. Using PCR-free sample preparation we achieved the first in-depth whole genome (hydroxyl)-methylcytosine, single-base-resolution maps from a ...
Eun-Ang Raiber, Dario Beraldi, Sergio Martínez Cuesta, Gordon R. McInroy, Zoya Kingsbury, Jennifer Becq, Terena James, Margarida Lopes, Kieren Allinson, Sarah Field, Sean Humphray, Thomas Santarius, Colin Watts, David Bentley, Shankar Balasubramanian   +14 more
doaj   +1 more source

P658: Hybridization-based target enrichment with Illumina Complete Long-Read assay

Genetics in Medicine Open, 2023
Tina Huang, Tiffany Truong, Yujue Chen, Gary Schroth, Feng Chen   +4 more
doaj   +1 more source

A dedicated caller for DUX4 rearrangements from whole-genome sequencing data

BMC Medical Genomics
Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no ‘standard of care’ diagnostic method for their confident identification.
Pascal Grobecker, Stefano Berri, John F. Peden, Kai-Jie Chow, Claire Fielding, Ivana Armogida, Helen Northen, David J. McBride, Peter J. Campbell, Jennifer Becq, Sarra L. Ryan, David R. Bentley, Christine J. Harrison, Anthony V. Moorman, Mark T. Ross, Martina Mijuskovic   +15 more
doaj   +1 more source

The complete mitogenome of a South African cryptic species of tadpole shrimp within the Triops granarius (Lucas, 1864) species group

Mitochondrial DNA. Part B. Resources, 2019
The complete mitochondrial genome of a cryptic species of tadpole shrimp from South Africa (Accession Number: MG770893) was recovered by low coverage shotgun sequencing. The mitogenome consists of 15,216 bp with a GC content of 30.95%.
Han Ming Gan, Ryan John Wasserman, Tatenda Dalu, D. Christopher Rogers   +3 more
doaj   +1 more source

The complete mitochondrial genome and phylogenetic analysis of Turricula nelliae spurius (Gastropoda, Turridae)

Mitochondrial DNA. Part B. Resources, 2019
Herein, we first determined the complete mitochondrial genome of Turricula nelliae spurius in this study. The circular mitochondrial genome is 16,450 bp in length, consisting of 13 protein-coding genes, 22 tRNA genes, and two ribosomal RNA genes.
Zeqin Fu, Jiantong Feng, Yahong Guo, Yingying Ye, Jiji Li, Baoying Guo, Zhenming Lv   +6 more
doaj   +1 more source

Complete mitochondrial genome of the Devil Ray, Mobula thurstoni (Lloyd, 1908) (Myliobatiformes: Myliobatidae)

Mitochondrial DNA. Part B. Resources, 2017
The Devil Ray (Mobula thurstoni) is a species with global distribution and is an important species in conservation terms, here we present its complete mitochondrial genome assembled with Illumina sequencing data.
Betsaida Santillán-Lugo, Raúl Llera-Herrera, David Corro-Espinosa, Erick C. Oñate-González, Guillermo Rodríguez-Domínguez, Nancy C. Saavedra-Sotelo   +5 more
doaj   +1 more source

Scalable screening of ternary-code DNA methylation dynamics associated with human traits

Cell Genomics
Summary: Epigenome-wide association studies (EWASs) are transforming our understanding of the interplay between epigenetics and complex human traits.
David C. Goldberg, Cameron Cloud, Sol Moe Lee, Bret Barnes, Steven Gruber, Elliot Kim, Anita Pottekat, Maximillian S. Westphal, Luana McAuliffe, Elisa Majounie, Manesh Kalayil Manian, Qingdi Zhu, Christine Tran, Mark Hansen, Jelena Stojakovic, Jared B. Parker, Rahul M. Kohli, Rishi Porecha, Nicole Renke, Wanding Zhou   +19 more
doaj   +1 more source

Analytical Performance of TruSight™ Oncology 500 ctDNA v2: Improved Sensitivity for Small Nucleotide Variants With Reduced DNA Input Requirements

The Journal of Liquid Biopsy, 2023
M. Cuadras, A. Mai, N. Sedlyarova, J. Beytebiere, V. Montel, S. Ananth, A. Nicholson-Shaw, T. Pawlowski, L. Watson, J. LoCoco   +9 more
doaj   +1 more source

Microbial metabolism shifts towards an adverse profile with supplementary iron in the TIM-2 in vitro model of the human colon

Frontiers in Microbiology, 2016
Oral iron administration in African children can increase the risk for infections. However, it remains unclear to what extent supplementary iron affects the intestinal microbiome.
Guus A.M. Kortman, Bas E. Dutilh, Bas E. Dutilh, Bas E. Dutilh, Annet J.H. Maathuis, Udo F Engelke, Jos eBoekhorst, Kevin P Keegan, Fiona Gwendolyn Ginn Nielsen, Fiona Gwendolyn Ginn Nielsen, Jason eBetley, Jacqueline C Weir, Zoya eKingsbury, Leo A.J. Kluijtmans, Dorine W Swinkels, Koen eVenema, Koen eVenema, Harold eTjalsma   +17 more
doaj   +1 more source

Reference bias in the Illumina Isaac aligner [PDF]

Bioinformatics, 2020
Cornish, Alex J, Chubb, Daniel, Frangou, Anna, Hoang, Phuc H, Kaiser, Martin, Wedge, David C, Houlston, Richard S, Valencia, Alfonso   +7 more
openaire   +3 more sources