Identification of copy number variants in whole-genome data using Reference Coverage Profiles

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

The identification of DNA copy numbers from short-read sequencing data remains a challenge for both technical and algorithmic reasons. The raw data for these analyses are measured in tens to hundreds of gigabytes per genome; transmitting, storing and analyzing such large files is cumbersome, particu...

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Bibliographic Details
Main Authors: Gustavo eGlusman, Alissa eSeverson, Varsha eDhankani, Max eRobinson, Terry eFarrah, Denise E. Mauldin, Anna B. Stittrich, Seth A. Ament, Jared C. Roach, Mary E. Brunkow, Dale L. Bodian, Joseph G. Vockley, Ilya eShmulevich, John E. Niederhuber, Leroy eHood
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-02-01
Series:Frontiers in Genetics
Subjects:
Signal processing
structural variation
Whole-genome sequencing
clinical genomics
depth of coverage
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00045/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00045/full

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