Article
A human genome structural variation sequencing resource reveals insights into mutational mechanisms.
Cell - 24 Nov 2010
Kidd Jeffrey M, Graves Tina, Newman Tera L, Fulton Robert, Hayden Hillary S, Malig Maika, Kallicki Joelle, Kaul Rajinder, Wilson Richard K, Eichler Evan E
Abstract excerpt
Understanding the prevailing mutational mechanisms responsible for human genome structural variation requires uniformity in the discovery of allelic variants and precision in terms of breakpoint delineation. We develop a resource based on capillary end sequencing of 13.8 million fosmid clones from 17 human genomes and characterize the complete sequence of 1054 large structural variants corresponding to 589...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.