Results 81 to 90 of about 1,170,509 (350)

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  

Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity

Nature Communications, 2020
To increase understanding of the genomic landscape of acral melanoma, a rare form of melanoma occurring on palms, soles or nail beds, whole genome sequencing of 87 tumors with matching transcriptome sequencing for 63 tumors was performed.
F. Newell, J. Wilmott, P. Johansson, K. Nones, V. Addala, P. Mukhopadhyay, N. Broit, C. Amato, Robert J Van Gulick, S. Kazakoff, A. Patch, L. Koufariotis, V. Lakis, C. Leonard, S. Wood, O. Holmes, Qinying Xu, K. Lewis, T. Medina, R. Gonzalez, R. Saw, A. Spillane, J. Stretch, R. Rawson, P. Ferguson, T. Dodds, J. Thompson, G. Long, M. Levesque, W. Robinson, J. Pearson, G. Mann, R. Scolyer, N. Waddell, N. Hayward   +34 more
semanticscholar   +1 more source

By dawn or dusk—how circadian timing rewrites bacterial infection outcomes

FEBS Letters, EarlyView.
The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo, Catherine S. Palmer, Jacqueline M. Kimmey   +2 more
wiley   +1 more source

Molecular bases of circadian magnesium rhythms across eukaryotes

FEBS Letters, EarlyView.
Circadian rhythms in intracellular [Mg2+] exist across eukaryotic kingdoms. Central roles for Mg2+ in metabolism suggest that Mg2+ rhythms could regulate daily cellular energy and metabolism. In this Perspective paper, we propose that ancestral prokaryotic transport proteins could be responsible for mediating Mg2+ rhythms and posit a feedback model ...
Helen K. Feord, Gerben van Ooijen
wiley   +1 more source

Whole Genome Sequencing Reveals Presence of High-Risk Global Clones of Klebsiella pneumoniae Harboring Multiple Antibiotic Resistance Genes in Multiple Plasmids in Mwanza, Tanzania [PDF]

, 2022
Vitus Silago, Stephen E. Mshana
openalex   +1 more source

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

Genome Biology, 2019
Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse human diseases.
S. Kosugi, Y. Momozawa, Xiaoxi Liu, C. Terao, M. Kubo, Y. Kamatani   +5 more
semanticscholar   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
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

Whole-genome sequencing data of Kazakh individuals

BMC Research Notes, 2021
Objectives Kazakhstan is a Central Asian crossroad of European and Asian populations situated along the way of the Great Silk Way. The territory of Kazakhstan has historically been inhabited by nomadic tribes and today is the multi-ethnic country with ...
Ulykbek Kairov, Askhat Molkenov, Saule Rakhimova, Ulan Kozhamkulov, Aigul Sharip, Daniyar Karabayev, Asset Daniyarov, Joseph H.Lee, Joseph D.Terwilliger, Ainur Akilzhanova, Zhaxybay Zhumadilov   +10 more
doaj   +1 more source

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

Proceedings of the National Academy of Sciences of the United States of America, 2020
Significance To understand the value and clinical impact of surveying genome-wide disease-causing genes and variants, we used a prospective cohort study design that enrolled volunteers who agreed to have their whole genome sequenced and to participate in
Ying-Chen Claire Hou, Hung-Chun Yu, R. Martin, Elizabeth T. Cirulli, Natalie M. Schenker-Ahmed, Michael A. Hicks, Isaac V. Cohen, Thomas J. Jönsson, Robyn R. Heister, Lori A. Napier, C. Swisher, S. Dominguez, Haibao Tang, Weizhong Li, Brad A. Perkins, Jaime Barea, Christina Rybak, Emily Smith, Keegan Duchicela, M. Doney, Pamila Brar, Nathaniel Hernandez, E. Kirkness, Andrew M. Kahn, J. C. Venter, D. Karow, C. Caskey   +26 more
semanticscholar   +1 more source