scholarly journals Complex and multi-allelic copy number variation in human disease

2015 ◽  
Vol 14 (5) ◽  
pp. 329-338 ◽  
Author(s):  
Christina L. Usher ◽  
Steven A. McCarroll
Keyword(s):  
Copy Number Variation ◽  
Human Disease ◽  
Copy Number ◽  
Number Variation ◽  
Allelic Copy Number

Allelic Copy Number Variation inFSCN2Detected Using Allele-Specific Genotyping and Multiplex Real-Time PCRs

2008 ◽  
Vol 49 (9) ◽  
pp. 3799 ◽  
Author(s):  
Zi-Bing Jin ◽  
Michiko Mandai ◽  
Kohei Homma ◽  
Chie Ishigami ◽  
Yasuhiko Hirami ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Real Time ◽  
Copy Number ◽  
Number Variation ◽  
Allele Specific ◽  
Allelic Copy Number

scholarly journals Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies

2008 ◽  
Vol 17 (8) ◽  
pp. 1127-1136 ◽  
Author(s):  
Arthur S. Lee ◽  
María Gutiérrez-Arcelus ◽  
George H. Perry ◽  
Eric J. Vallender ◽  
Welkin E. Johnson ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Rhesus Macaque ◽  
Human Disease ◽  
Copy Number ◽  
Macaque Genome ◽  
Number Variation ◽  
Candidate Loci ◽  
Rhesus Macaque Genome

Abstract 3581: GATK ACNV: allelic copy-number variation discovery from SNPs and coverage data

2017 ◽  
Author(s):  
Aaron Chevalier ◽  
Lee Lichtenstein ◽  
Andrey Smirnov ◽  
Samuel K. Lee ◽  
Mehrtash Babidi ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Number Variation ◽  
Allelic Copy Number

scholarly journals Runaway multi-allelic copy number variation at the α-defensin locus in African and Asian populations

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Timothy Hughes ◽  
Lars Hansson ◽  
Ibrahim Akkouh ◽  
Riad Hajdarevic ◽  
Jorunn S. Bringsli ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Asian Populations ◽  
Number Variation ◽  
Allelic Copy Number

scholarly journals Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

Genomics ◽  
2009 ◽  
Vol 93 (1) ◽  
pp. 22-26 ◽  
Author(s):  
Iuliana Ionita-Laza ◽  
Angela J. Rogers ◽  
Christoph Lange ◽  
Benjamin A. Raby ◽  
Charles Lee
Keyword(s):  
Copy Number Variation ◽  
Genetic Association ◽  
Association Analysis ◽  
Human Disease ◽  
Copy Number ◽  
Disease Pathogenesis ◽  
Genetic Association Analysis ◽  
Number Variation

scholarly journals PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data

Biostatistics ◽  
2009 ◽  
Vol 11 (1) ◽  
pp. 164-175 ◽  
Author(s):  
C. D. Greenman ◽  
G. Bignell ◽  
A. Butler ◽  
S. Edkins ◽  
J. Hinton ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Cancer Data ◽  
Number Variation ◽  
Allelic Copy Number

Copy-number variation and association studies of human disease

2007 ◽  
Vol 39 (S7) ◽  
pp. S37-S42 ◽  
Author(s):  
Steven A McCarroll ◽  
David M Altshuler
Keyword(s):  
Copy Number Variation ◽  
Human Disease ◽  
Copy Number ◽  
Association Studies ◽  
Number Variation
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