scholarly journals Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

2012 ◽  
Vol 21 (3) ◽  
pp. 343-346 ◽  
Author(s):  
Sandesh C S Nagamani ◽  
Ayelet Erez ◽  
Bruria Ben-Zeev ◽  
Moshe Frydman ◽  
Susan Winter ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Developmental Delay ◽  
Copy Number ◽  
Array Cgh ◽  
Autistic Spectrum Disorders ◽  
Autistic Spectrum ◽  
Number Variation ◽  
Spectrum Disorders

scholarly journals Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

Neuron ◽  
2011 ◽  
Vol 70 (5) ◽  
pp. 886-897 ◽  
Author(s):  
Dan Levy ◽  
Michael Ronemus ◽  
Boris Yamrom ◽  
Yoon-ha Lee ◽  
Anthony Leotta ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
De Novo ◽  
Autistic Spectrum Disorders ◽  
Autistic Spectrum ◽  
Number Variation ◽  
Spectrum Disorders

scholarly journals Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

2012 ◽  
Vol 21 (6) ◽  
pp. 620-625 ◽  
Author(s):  
Barbara Wiśniowiecka-Kowalnik ◽  
Monika Kastory-Bronowska ◽  
Magdalena Bartnik ◽  
Katarzyna Derwińska ◽  
Wanda Dymczak-Domini ◽  
...  
Keyword(s):  
Array Cgh ◽  
Oligonucleotide Array ◽  
Autistic Spectrum Disorders ◽  
Autistic Spectrum ◽  
Spectrum Disorders

scholarly journals Refining analyses of copy number variation identifies specific genes associated with developmental delay

2014 ◽  
Vol 46 (10) ◽  
pp. 1063-1071 ◽  
Author(s):  
Bradley P Coe ◽  
Kali Witherspoon ◽  
Jill A Rosenfeld ◽  
Bregje W M van Bon ◽  
Anneke T Vulto-van Silfhout ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Developmental Delay ◽  
Copy Number ◽  
Number Variation

scholarly journals Comparative Study of Exome Copy Number Variation Estimation Tools Using Array Comparative Genomic Hybridization as Control

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Yan Guo ◽  
Quanghu Sheng ◽  
David C. Samuels ◽  
Brian Lehmann ◽  
Joshua A. Bauer ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Array Cgh ◽  
False Positive Rate ◽  
Comparative Genomic ◽  
Comparative Genome Hybridization ◽  
Sequencing Data ◽  
Number Variation ◽  
Low Sensitivity

Exome sequencing using next-generation sequencing technologies is a cost-efficient approach to selectively sequencing coding regions of the human genome for detection of disease variants. One of the lesser known yet important applications of exome sequencing data is to identify copy number variation (CNV). There have been many exome CNV tools developed over the last few years, but the performance and accuracy of these programs have not been thoroughly evaluated. In this study, we systematically compared four popular exome CNV tools (CoNIFER, cn.MOPS, exomeCopy, and ExomeDepth) and evaluated their effectiveness against array comparative genome hybridization (array CGH) platforms. We found that exome CNV tools are capable of identifying CNVs, but they can have problems such as high false positives, low sensitivity, and duplication bias when compared to array CGH platforms. While exome CNV tools do serve their purpose for data mining, careful evaluation and additional validation is highly recommended. Based on all these results, we recommend CoNIFER and cn.MOPs for nonpaired exome CNV detection over the other two tools due to a low false-positive rate, although none of the four exome CNV tools performed at an outstanding level when compared to array CGH.

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

2010 ◽  
Vol 156 (2) ◽  
pp. 115-124 ◽  
Author(s):  
Anna Bremer ◽  
MaiBritt Giacobini ◽  
Mats Eriksson ◽  
Peter Gustavsson ◽  
Viviann Nordin ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number Variation ◽  
Copy Number ◽  
Autism Spectrum ◽  
Number Variation ◽  
Variation Characteristics ◽  
Spectrum Disorders

scholarly journals Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH

Genomics ◽  
2006 ◽  
Vol 88 (2) ◽  
pp. 152-162 ◽  
Author(s):  
Cecilia de Bustos ◽  
Teresita Díaz de Ståhl ◽  
Arkadiusz Piotrowski ◽  
Kiran K. Mantripragada ◽  
Patrick G. Buckley ◽  
...  
Keyword(s):  
High Resolution ◽  
Copy Number Variation ◽  
Copy Number ◽  
Human Population ◽  
Array Cgh ◽  
Segmental Duplications ◽  
Number Variation ◽  
Normal Human

scholarly journals A copy number variation morbidity map of developmental delay

2011 ◽  
Vol 43 (9) ◽  
pp. 838-846 ◽  
Author(s):  
Gregory M Cooper ◽  
Bradley P Coe ◽  
Santhosh Girirajan ◽  
Jill A Rosenfeld ◽  
Tiffany H Vu ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Developmental Delay ◽  
Copy Number ◽  
Number Variation
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