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Showing 1 to 12 of 18 entries
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Preprocessing and downstream analysis of microarray DNA copy number profiles.

Briefings in bioinformatics

van de Wiel MA, Picard F, van Wieringen WN, Ylstra B.
PMID: 20172948
Brief Bioinform. 2011 Jan;12(1):10-21. doi: 10.1093/bib/bbq004. Epub 2010 Feb 19.

Analysis of DNA copy number profiles requires methods tailored to the specific nature of these data. The number of available data analysis methods has grown enormously in the last 5 years. We discuss the typical characteristics of DNA copy...

A new classification method using array Comparative Genome Hybridization data, based on the concept of Limited Jumping Emerging Patterns.

BMC bioinformatics

Gambin T, Walczak K.
PMID: 19208168
BMC Bioinformatics. 2009 Jan 30;10:S64. doi: 10.1186/1471-2105-10-S1-S64.

BACKGROUND: Classification using aCGH data is an important and insufficiently investigated problem in bioinformatics. In this paper we propose a new classification method of DNA copy number data based on the concept of limited Jumping Emerging Patterns. We present...

CGHnormaliter: a Bioconductor package for normalization of array CGH data with many CNAs.

Bioinformatics (Oxford, England)

van Houte BP, Binsl TW, Hettling H, Heringa J.
PMID: 20418341
Bioinformatics. 2010 May 15;26(10):1366-7. doi: 10.1093/bioinformatics/btq155. Epub 2010 Apr 23.

SUMMARY: CGHnormaliter is a package for normalization of array comparative genomic hybridization (aCGH) data. It uses an iterative procedure that effectively eliminates the influence of imbalanced copy numbers. This leads to a more reliable assessment of copy number alterations...

[Upper G.I. cancer: the esophagus and stomach. II. The current status of comprehensive gene analysis of esophageal cancer].

Gan to kagaku ryoho. Cancer & chemotherapy

Shuto A, Tanaka F, Mimori K, Fujita H, Shirouzu K, Mori M.
PMID: 19798826
Gan To Kagaku Ryoho. 2009 Sep;36(9):1435-41.

No abstract available.

Developmental psychopathology: the role of structural variation in the genome.

Development and psychopathology

Gill M.
PMID: 23062300
Dev Psychopathol. 2012 Nov;24(4):1319-34. doi: 10.1017/S0954579412000739.

A wide range of developmental disorders present with characteristic psychopathologies and behaviors, with diagnoses including, inter alia, cognitive disorders and learning disabilities, epilepsies, autism, and schizophrenia. Each, to varying extent, has a genetic component to etiology and is associated...

Chromothripsis Detection and Characterization Using the CTLPScanner Web Server.

Methods in molecular biology (Clifton, N.J.)

Yang J, Liu B, Cai H.
PMID: 29564830
Methods Mol Biol. 2018;1769:265-278. doi: 10.1007/978-1-4939-7780-2_17.

Accurate detection of chromothripsis event is important to study the mechanisms underlying this phenomenon. CTLPScanner ( http://cgma.scu.edu.cn/CTLPScanner/ ) is a web-based tool for identification and annotation of chromothripsis-like pattern (CTLP) in genomic array data. In this chapter, we illustrate...

Enhancer chip: detecting human copy number variations in regulatory elements.

PloS one

Savarese M, Piluso G, Orteschi D, Di Fruscio G, Dionisi M, Blanco Fdel V, Torella A, Giugliano T, Iacomino M, Zollino M, Neri G, Nigro V.
PMID: 23284961
PLoS One. 2012;7(12):e52264. doi: 10.1371/journal.pone.0052264. Epub 2012 Dec 20.

Critical functional properties are embedded in the non-coding portion of the human genome. Recent successful studies have shown that variations in distant-acting gene enhancer sequences can contribute to disease. In fact, various disorders, such as thalassaemias, preaxial polydactyly or...

Application of array-based comparative genome hybridization in children with developmental delay or mental retardation.

Pediatrics and neonatology

Liang JS, Shimojima K, Yamamoto T.
PMID: 19166117
Pediatr Neonatol. 2008 Dec;49(6):213-7. doi: 10.1016/S1875-9572(09)60013-9.

Children with developmental delay or mental retardation (DD/MR) are commonly encountered in child neurology clinics, and establishing an etiologic diagnosis is a challenge for child neurologists. Among the etiologies, chromosomal imbalance is one of the most important causes. However,...

rCGH: a comprehensive array-based genomic profile platform for precision medicine.

Bioinformatics (Oxford, England)

Commo F, Guinney J, Ferté C, Bot B, Lefebvre C, Soria JC, André F.
PMID: 26708336
Bioinformatics. 2016 May 01;32(9):1402-4. doi: 10.1093/bioinformatics/btv718. Epub 2015 Dec 26.

UNLABELLED: We present rCGH, a comprehensive array-based comparative genomic hybridization analysis workflow, integrating computational improvements and functionalities specifically designed for precision medicine. rCGH supports the major microarray platforms, ensures a full traceability and facilitates profiles interpretation and decision-making through...

[Diagnosis of Wolf-Hirschhorn syndrome by array-comparative genomic hybridization in an infant].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Que LP, Liang LY, Meng Z, Luo XY, Ou RQ, Hou LL.
PMID: 25523581
Zhongguo Dang Dai Er Ke Za Zhi. 2014 Dec;16(12):1277-8.

No abstract available.

SNP genotyping with the next generation of CGH microarray.

MLO: medical laboratory observer

Burton R.
PMID: 24180067
MLO Med Lab Obs. 2013 Jul;45(7):8, 10, 12 passim.

Enabling the simultaneous detection of CNV and copy-neutral aberrations within one test, the combined aCGH and SNP array has the potential to vastly improve both workflow efficiency and productivity within the cytogenetics research laboratory. The applications of the combined...

Array-CGH: importance in the study of developmental delays in pediatrics.

Revista de neurologia

Pinheiro MI, Silva C, Lourenço L, Gonçalves D, Dória S, Guardiano M, Leão M.
PMID: 32729108
Rev Neurol. 2020 Sep 01;71(5):171-176. doi: 10.33588/rn.7105.2020211.

INTRODUCTION: Global developmental delay (GDD) is an intellectual and adaptive impairment in infants under 5 years of age who fail to meet expected developmental milestones. Intellectual disability is characterized by limitation in intellectual function and adaptive behavior, with onset...

Showing 1 to 12 of 18 entries