Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos [PDF]
Genomics & Informatics, 2014 Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies.
Jin Ok Yang +7 more
doaj +1 more source
A genetic risk score for glioblastoma multiforme based on copy number variations
Cancer Treatment and Research Communications, 2021 Glioblastoma multiforme is the most common form of brain cancer. Several lines of evidence suggest that glioblastoma multiforme has a genetic basis. A genetic test that could identify people who are at high risk of developing glioblastoma multiforme ...
Charmeine Ko, James P. Brody
doaj +1 more source
Genomic aberrations in normal tissue adjacent to HER2-amplified breast cancers: field cancerization or contaminating tumor cells? [PDF]
, 2012 Field cancerization effects as well as isolated tumor cell foci extending well beyond the invasive tumor margin have been described previously to account for local recurrence rates following breast conserving surgery despite adequate surgical margins and
Benz, Christopher C +8 more
core +2 more sources
Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell [PDF]
, 2013 Kindred cells can have different genomes because of dynamic changes in DNA. Single cell sequencing is needed to characterize these genomic differences but has been hindered by whole-genome amplification bias, resulting in low genome coverage.
Chapman, Alec Randolph +2 more
core +1 more source
Influence of environmental factors and genetic variation on mitochondrial DNA copy number
Journal of Animal Science, 2022 Abstract Mitochondrial DNA copy number (mtDNA CN) has been shown to be highly heritable and associated with traits of interest in humans. However, studies are lacking in the literature for livestock species such as beef cattle. In this study, 2,371 individuals from a crossbred beef population comprising the Germplasm Evaluation program ...
Leticia P Sanglard +3 more
openaire +4 more sources
Frontiers in Endocrinology, 2021 Insulinomatosis is characterized by monohormonality of multiple macro-tumors and micro-tumors that arise synchronously and metachronously in all regions of the pancreas, and often recurring hypoglycemia. One of the main characteristics of insulinomatosis
Kirill Anoshkin +13 more
doaj +1 more source
DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing
BMC Genomics, 2010 Background DNA copy number variations occur within populations and aberrations can cause disease. We sought to develop an improved lab-automatable, cost-efficient, accurate platform to profile DNA copy number.
Jackson Stuart +10 more
doaj +1 more source
Genome reorganization in different cancer types: detection of cancer specific breakpoint regions [PDF]
, 2019 Background: Tumorigenesis is a multi-step process which is accompanied by substantial changes in genome organization. The development of these changes is not only a random process, but rather comprise specific DNA regions that are prone to the ...
Klein, Andreas +3 more
core +1 more source
, 2021 Data from a long time evolution experiment with Escherichia Coli and from a large study on copy number variations in subjects with european ancestry are analyzed in order to argue that mutations can be described as Levy flights in the mutation space ...
Gonzalez, Augusto, Leon, Dario
core
ZINBA integrates local covariates with DNA-seq data to identify broad and narrow regions of enrichment, even within amplified genomic regions [PDF]
, 2011 ZINBA (Zero-Inflated Negative Binomial Algorithm) identifies genomic regions enriched in a variety of ChIP-seq and related next-generation sequencing experiments (DNA-seq), calling both broad and narrow modes of enrichment across a range of signal-to ...
Rashid, Naim U +4 more
core +2 more sources