نتایج جستجو برای: dna copy number variations

تعداد نتایج: 1804615  

2011
Jing Liu Francois Bernier Julie Lauzon R. Brian Lowry Judy Chernos

Microarray-based comparative genomic hybridization (array CGH) is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances). Th...

2010
Hasmik Mkrtchyan Madeleine Gross Sophie Hinreiner Anna Polytiko Marina Manvelyan Kristin Mrasek Nadezda Kosyakova Elisabeth Ewers Heike Nelle Thomas Liehr Samarth Bhatt Karen Thoma Erich Gebhart Sylvia Wilhelm Raimund Fahsold Marianne Volleth Anja Weise

The discovery of copy number variations (CNV) in the human genome opened new perspectives in the study of the genetic causes of inherited disorders and the etiology of common diseases. Differently patterned instances of somatic mosaicism in CNV regions have been shown to be present in monozygotic twins and throughout different tissues within an individual. A single-cell-level investigation of C...

2012
Hong Liu Asher Zilberstein Pascal Pannier Frederic Fleche Christopher Arendt Christoph Lengauer Chang S. Hahn

Somatic cell genetic alterations are a hallmark of tumor development and progression. Although various technologies have been developed and utilized to identify genetic aberrations, identifying genetic translocations at the chromosomal level is still a challenging task. High density SNP microarrays are useful to measure DNA copy number variation (CNV) across the genome. Utilizing SNP array data...

Journal: :Genome research 2016
Zihua Wang Peter Andrews Jude Kendall Beicong Ma Inessa Hakker Linda Rodgers Michael Ronemus Michael Wigler Dan Levy

Copy number variants (CNVs) underlie a significant amount of genetic diversity and disease. CNVs can be detected by a number of means, including chromosomal microarray analysis (CMA) and whole-genome sequencing (WGS), but these approaches suffer from either limited resolution (CMA) or are highly expensive for routine screening (both CMA and WGS). As an alternative, we have developed a next-gene...

Journal: :Behavior genetics 2010
Lady Velez Greta Sokoloff Klaus A Miczek Abraham A Palmer Stephanie C Dulawa

Some BALB/c substrains exhibit different levels of aggression. We compared aggression levels between male BALB/cJ and BALB/cByJ substrains using the resident intruder paradigm. These substrains were also assessed in other tests of emotionality and information processing including the open field, forced swim, fear conditioning, and prepulse inhibition tests. We also evaluated single nucleotide p...

2015
Priit Palta Lauris Kaplinski Liina Nagirnaja Andres Veidenberg Märt Möls Mari Nelis Tõnu Esko Andres Metspalu Maris Laan Maido Remm

DNA copy number variants (CNVs) that alter the copy number of a particular DNA segment in the genome play an important role in human phenotypic variability and disease susceptibility. A number of CNVs overlapping with genes have been shown to confer risk to a variety of human diseases thus highlighting the relevance of addressing the variability of CNVs at a higher resolution. So far, it has no...

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