Strategies for the detection of copy number and other structural variants in the human genome.
Hum Genomics
; 2(6): 403-14, 2006 Jun.
Article
em En
| MEDLINE
| ID: mdl-16848978
ABSTRACT
Advances in genome scanning technologies are revealing that copy number variants (CNVs) and polymorphisms, ranging from a few kilobases to several megabases in size, are present in genomes at frequencies much greater than previously known. Discoveries of additional forms of genomic variation, including inversions, insertions, deletions and complex rearrangements, are also occurring at an increased rate. Along with CNVs, these sequence alterations are collectively known as structural variants, and their discovery has had an immediate impact on the interpretation of basic research and clinical diagnostic data. This paper discusses different methods, experimental strategies and technologies that are currently available to study copy number variation and other structural variants in the human genome.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Genoma Humano
/
Dosagem de Genes
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Hum Genomics
Assunto da revista:
GENETICA
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Canadá