Ontology highlight
ABSTRACT:
SUBMITTER: Teague B
PROVIDER: S-EPMC2890719 | biostudies-literature | 2010 Jun
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20100601 24
Variation in genome structure is an important source of human genetic polymorphism: It affects a large proportion of the genome and has a variety of phenotypic consequences relevant to health and disease. In spite of this, human genome structure variation is incompletely characterized due to a lack of approaches for discovering a broad range of structural variants in a global, comprehensive fashion. We addressed this gap with Optical Mapping, a high-throughput, high-resolution single-molecule sy ...[more]