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, partic...

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Bibliographic Details
Main Authors: Glusman, Gustavo, Severson, Alissa, Dhankani, Varsha, Robinson, Max, Farrah, Terry, Mauldin, Denise E., Stittrich, Anna B., Ament, Seth A., Roach, Jared C., Brunkow, Mary E., Bodian, Dale L., Vockley, Joseph G., Shmulevich, Ilya, Niederhuber, John E., Hood, Leroy
Format: Online
Language:English
Published: Frontiers Media S.A. 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330915/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330915/

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