Article
Characterization of missing human genome sequences and copy-number polymorphic insertions.
Nature methods - 1 May 2010
Kidd Jeffrey M, Sampas Nick, Antonacci Francesca, Graves Tina, Fulton Robert, Hayden Hillary S, Alkan Can, Malig Maika, Ventura Mario, Giannuzzi Giuliana, Kallicki Joelle, Anderson Paige, Tsalenko Anya, Yamada N Alice, Tsang Peter, Kaul Rajinder, Wilson Richard K, Bruhn Laurakay, Eichler Evan E
Abstract excerpt
The extent of human genomic structural variation suggests that there must be portions of the genome yet to be discovered, annotated and characterized at the sequence level. We present a resource and analysis of 2,363 new insertion sequences corresponding to 720 genomic loci. We found that a substantial fraction of these sequences are either missing, fragmented or misassigned when compared to recent de novo...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.