Results 61 to 70 of about 174,007 (375)

Liquid biopsy epigenetics: establishing a molecular profile based on cell‐free DNA

Molecular Oncology, EarlyView.
Cell‐free DNA (cfDNA) fragments in plasma from cancer patients carry epigenetic signatures reflecting their cells of origin. These epigenetic features include DNA methylation, nucleosome modifications, and variations in fragmentation. This review describes the biological properties of each feature and explores optimal strategies for harnessing cfDNA ...
Christoffer Trier Maansson, Anders Lade Nielsen, Boe Sandahl Sorensen   +2 more
wiley   +1 more source

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

npj Genomic Medicine, 2023
Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a rich resource for population genomic studies.
Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, Christina Chambers, Stephen F. Kingsmore   +16 more
doaj   +1 more source

Whole genome sequencing-based mapping and candidate identification of mutations from fixed zebrafish tissue [PDF]

, 2017
As forward genetic screens in zebrafish become more common, the number of mutants that cannot be identified by gross morphology or through transgenic approaches, such as many nervous system defects, has also increased.
Ackerman, Sarah D, Gray, Ryan S, Harty, Breanne L, Herbert, Amy L, Holmgren, Melanie, Johnson, Stephen L, Monk, Kelly R, O\u27Reilly-Pol, Thomas, Sanchez, Nicholas E   +8 more
core   +3 more sources

The landscape of viral associations in human cancers [PDF]

, 2020
Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, for which whole-genome and—for a subset—whole-transcriptome sequencing data from 2,658 cancers across 38 tumor types was aggregated, we systematically investigated potential ...
Alawi, Malik, Borozan, Ivan, Brewer, Daniel S, Cooper, Colin S, Desai, Nikita, Eils, Roland, Ferretti, Vincent, Grundhoff, Adam, Iskar, Murat, Lichter, Peter, Moch, Holger, PCAWG Consortium, PCAWG Pathogens, Sültmann, Holger, Zapatka, Marc   +14 more
core   +3 more sources

Cis‐regulatory and long noncoding RNA alterations in breast cancer – current insights, biomarker utility, and the critical need for functional validation

Molecular Oncology, EarlyView.
The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués, Aracele Martinez‐Mendez, John Crown, Alex Eustace   +3 more
wiley   +1 more source

Population structure of the B0/W148 Mycobacterium tuberculosis subtype: Phylogenetic analysis and characteristics of genotypic drug resistance

Acta Biomedica Scientifica
Background. The B0/W148 subtype belongs to the L2phylogenetic lineage of Mycobacterium tuberculosis and is most common in the former Soviet Union. Test systems capable of detecting genetic variants of the pathogen are needed for effective epidemiological
V. V. Sinkov, O. V. Ogarkov
doaj   +1 more source

Whole Genome Sequencing for Tracing Geographical Origin of Imported Cases of Human Brucellosis in Sweden

Microorganisms, 2019
Human infections with Brucella melitensis are occasionally reported in Sweden, despite the fact that the national flocks of sheep and goats are officially free from brucellosis. The aim of our study was to analyze 103 isolates of B.
Lorena Sacchini, Tara Wahab, Elisabetta Di Giannatale, Katiuscia Zilli, Anna Abass, Giuliano Garofolo, Anna Janowicz   +6 more
doaj   +1 more source

InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. [PDF]

, 2016
Phasing of single nucleotide (SNV), and structural variations into chromosome-wide haplotypes in humans has been challenging, and required either trio sequencing or restricting phasing to population-based haplotypes.
Bafna, Vineet, Bansal, Vikas, Edge, Peter, Patel, Anand, Selvaraj, Siddarth   +4 more
core   +2 more sources

Evolutionary dynamics of the chloroplast genome in Daphne (Thymelaeaceae): comparative analysis with related genera and insights into phylogenetics

FEBS Open Bio, EarlyView.
Comparative analysis of chloroplast genomes from 14 genera of Thymelaeaceae revealed variation in gene content, ranging from 128 to 142 genes, primarily influenced by IR expansion/contraction events and pseudogenization of ndhF, ndhI, and ndhG. Two large inversions were detected within the large single‐copy region, including a synapomorphic inversion ...
Abdullah, Hui Li, Rushan Yan, Chengyu Chen, Madiha Islam, Abdul Majid, Ibrar Ahmed, Parviz Heidari, Xiaoxuan Tian   +8 more
wiley   +1 more source

Budućnost cjelogenomskog sekvenciranja u pedijatriji

Liječnički vjesnik, 2023
Sekvenciranje cijeloga genoma (eng. Whole genome sequencing – WGS) postaje sve zastupljeniji genetički dijagnostički test u svakodnevnoj kliničkoj praksi. Inicijativa za medicinski genom (eng.
Petar Brlek, Dragan Primorac
doaj   +1 more source