Identifying Copy Number Variations based on Next Generation Sequencing Data by a Mixture of Poisson Model [PDF]
, 2010 Next generation sequencing (NGS) technologies have profoundly impacted biological research and are becoming more and more popular due to cost effectiveness and their speed.
Andreas Mayr +4 more
core +2 more sources
E2F1 germline copy number variations and melanoma susceptibility
Journal of Translational Medicine, 2019 Background Melanoma is an aggressive type of skin cancer whose aetiology remains elusive as both environmental and genetic factors can contribute to its development.
Maria Santa Rocca +7 more
doaj +1 more source
Copy Number Variation Detection Using Total Variation [PDF]
Proceedings of the 10th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics, 2019 Next-generation sequencing (NGS) technologies offer new opportunities for precise and accurate identification of genomic aberrations, including copy number variations (CNVs). For high-throughput NGS data, using depth of coverage has become a major approach to identify CNVs, especially for whole exome sequencing (WES) data.
Fatima, Zare, Sheida, Nabavi
openaire +2 more sources
A normalization technique for next generation sequencing experiments [PDF]
, 2010 Next generation sequencing (NGS) are these days one of the key technologies in biology. NGS' cost effectiveness and capability of finding the smallest variations in the genome makes them increasingly popular.
Andreas Mayr +4 more
core +3 more sources
Copy number variations in female infertility in China
Balkan Journal of Medical Genetics, 2019 Copy number variation (CNV) is a main cause of male infertility, yet its influence still remains elusive in that of females. To investigate the correlation between CNV and female infertility, we applied whole-genome CNV analyses by next generation ...
Huang W +7 more
doaj +1 more source
Identification of Copy Number Variations in Xiang and Kele Pigs. [PDF]
PLoS ONE, 2016 Xiang and Kele pigs are two well-known local Chinese pig breeds that possess rich genetic resources and have enormous economic and scientific value. We performed a comprehensive genomic analysis of the copy number variations (CNVs) in these breeds.
Jian Xie +6 more
doaj +1 more source
Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus [PDF]
, 2010 Background Recent efforts have been made to link complex human traits and disease susceptibility to DNA copy numbers. The leptin receptor (LEPR) has been implicated in obesity and diabetes.
Jae-Pil Jeon +6 more
core +2 more sources
Antigen-presenting genes and genomic copy number variations in the Tasmanian devil MHC. [PDF]
, 2012 RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'.
Amemiya, Chris T +8 more
core +4 more sources
Copy number variations of five Y chromosome genes in donkeys [PDF]
Archives Animal Breeding, 2017 In mammals, the Y chromosome plays a pivotal role in male sex determination and is essential for normal sperm production. A number of studies were conducted on Y chromosome genes of various species and identified single-copy and multi-copy genes ...
H. Han +5 more
doaj +1 more source
Detection of copy number variations and their effects in Chinese bulls [PDF]
, 2014 BACKGROUND: Copy number variations (CNVs) are a main source of genomic structural variations underlying animal evolution and production traits. Here, with one pure-blooded Angus bull as reference, we describe a genome-wide analysis of CNVs based on ...
Chunlei Zhang +12 more
core +1 more source