Results 61 to 70 of about 905,445 (296)

novoBreak: local assembly for breakpoint detection in cancer genomes. [PDF]

, 2017
We present novoBreak, a genome-wide local assembly algorithm that discovers somatic and germline structural variation breakpoints in whole-genome sequencing data.
Boutros, Paul, Chen, Junjie, Chen, Ken, Chen, Tenghui, Chong, Zechen, Ding, Li, Fan, Xian, Gao, Min, Lee, Anna Y, Ruan, Jue, Zhou, Wanding   +10 more
core  

Crucial parameters for precise copy number variation detection in formalin‐fixed paraffin‐embedded solid cancer samples

Molecular Oncology, EarlyView.
This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris, Vasiliki Siozopoulou, Léon C van Kempen, Anne Sieben, Ella Roelant, Stig Hellemans, Elyne Backx, Laure Sorber, Koen De Winne, Senada Koljenović, Karen Zwaenepoel   +10 more
wiley   +1 more source

From meadows to milk to mucosa – adaptation of Streptococcus and Lactococcus species to their nutritional environments [PDF]

, 2011
Lactic acid bacteria (LAB) are indigenous to food-related habitats as well as associated with the mucosal surfaces of animals. The LAB family Streptococcaceae consists of the genera Lactococcus and Streptococcus.
Adab, P., Blissett, J., Frew, E., Gill, Paramjit, Griffin, T. L., Griffith, L., Hurley, K. L., Jolly, K., Lancashire, E. R., McGee, E., Pallan, M. J., Parry, J. M., Thompson, J. L.   +12 more
core   +8 more sources

Typing methods based on whole genome sequencing data

One Health Outlook, 2020
Whole genome sequencing (WGS) of foodborne pathogens has become an effective method for investigating the information contained in the genome sequence of bacterial pathogens.
Laura Uelze, Josephine Grützke, Maria Borowiak, Jens Andre Hammerl, Katharina Juraschek, Carlus Deneke, Simon H. Tausch, Burkhard Malorny   +7 more
doaj   +1 more source

Archon Genomics X PRIZE Validation Protocol [PDF]

, 2011
This document is a collective assembly of techniques designed to test the quality and accuracy of 100 whole human genome sequences resulting from the $10 Million Archon Genomics X PRIZE (AGXP) competition.
Edison Liu, Granger Sutton, Larry Kedes, Victor Jongeneel   +3 more
core   +1 more source

Analysis of Archived Residual Newborn Screening Blood Spots After Whole Genome Amplification [PDF]

, 2015
Deidentified newborn screening bloodspot samples (NBS) represent a valuable potential resource for genomic research if impediments to whole exome sequencing of NBS deoxyribonucleic acid (DNA), including the small amount of genomic DNA in NBS material ...
Benstead-Hume, Graeme, Cantarel, Brandi L., Farrell, Andrew, Finnell, Richard H., Lei, Yunping, Reese, Justin, Weaver, Daniel, Zhu, Huiping   +7 more
core   +3 more sources

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

Multi-country and intersectoral assessment of cluster congruence between pipelines for genomics surveillance of foodborne pathogens

Nature Communications
Different laboratories employ different Whole-Genome Sequencing (WGS) pipelines for Food and Waterborne disease (FWD) surveillance, casting doubt on the comparability of their results and hindering optimal communication at intersectoral and international
Verónica Mixão, Miguel Pinto, Holger Brendebach, Daniel Sobral, João Dourado Santos, Nicolas Radomski, Anne Sophie Majgaard Uldall, Arkadiusz Bomba, Michael Pietsch, Andrea Bucciacchio, Andrea de Ruvo, Pierluigi Castelli, Ewelina Iwan, Sandra Simon, Claudia E. Coipan, Jörg Linde, Liljana Petrovska, Rolf Sommer Kaas, Katrine Grimstrup Joensen, Sofie Holtsmark Nielsen, Kristoffer Kiil, Karin Lagesen, Adriano Di Pasquale, João Paulo Gomes, Carlus Deneke, Simon H. Tausch, Vítor Borges   +26 more
doaj   +1 more source

Towards Better Understanding of Artifacts in Variant Calling from High-Coverage Samples [PDF]

, 2015
Motivation: Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls and the ...
Li, Heng
core   +1 more source

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, EarlyView.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source