Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Alexander Urban
PROVIDER: E-GEOD-6010 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Proceedings of the National Academy of Sciences of the United States of America 20070605 24
Copy-number variants (CNVs) are an abundant form of genetic variation in humans. However, approaches for determining exact CNV breakpoint sequences (physical deletion or duplication boundaries) across individuals, crucial for associating genotype to phenotype, have been lacking so far, and the vast majority of CNVs have been reported with approximate genomic coordinates only. Here, we report an approach, called BreakPtr, for fine-mapping CNVs (available from http://breakptr.gersteinlab.org). We ...[more]