Copy-number-variation and copy-number-alteration region detection by cumulative plots
نویسندگان
چکیده
منابع مشابه
BIRC5 Genomic Copy Number Variation in Early-Onset Breast Cancer
Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...
متن کاملDe novo detection of copy number variation by co-assembly
MOTIVATION Comparing genomes of individual organisms using next-generation sequencing data is, until now, mostly performed using a reference genome. This is challenging when the reference is distant and introduces bias towards the exact sequence present in the reference. Recent improvements in both sequencing read length and efficiency of assembly algorithms have brought direct comparison of in...
متن کاملMSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization
Karla de Oliveira Pelegrino, Sofia Sugayama, Karina Lezirovitz, Ana Lúcia Catelani, Fernando Kok, Maria de Lourdes Chauffaille I Instituto de Pesquisa e Desenvolvimento, Grupo Fleury, São Paulo/SP, Brazil. II Hospital das Clı́nicas da Faculdade de Medicina da Universidade de São Paulo, Departamento de Pediatria, São Paulo/SP, Brazil. III Hospital das Clı́nicas da Faculdade de Medicina da Universi...
متن کاملcopy number variation detection in sheep genome by using ovine beadchip 50k
introduction recently, genomic research in livestock is focused on genomic variation and its effect on phenotypic performance in economic traits. copy number variation (cnv) is one of these variations in genome including insertion, deletion and duplication of 1 kb to 1 mb segment with more than 90% similarity. cnvs can change gene structure and dosage, can regulate gene expression and function ...
متن کاملCopy number variation at the breakpoint region of isochromosome 17q.
Isochromosome 17q, or i(17q), is one of the most frequent nonrandom changes occurring in human neoplasia. Most of the i(17q) breakpoints cluster within a approximately 240-kb interval located in the Smith-Magenis syndrome common deletion region in 17p11.2. The breakpoint cluster region is characterized by a complex architecture with large ( approximately 38-49 kb), inverted and directly oriente...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2009
ISSN: 1471-2105
DOI: 10.1186/1471-2105-10-s1-s67