Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis-Reference-Cited by-同舟云学术

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

Published:2017-10-25 Issue:1 Volume:9 Page:
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Med

Author:

Barseghyan Hayk,Tang Wilson,Wang Richard T.,Almalvez Miguel,Segura Eva,Bramble Matthew S.,Lipson Allen,Douine Emilie D.,Lee Hane,Délot Emmanuèle C.,Nelson Stanley F.,Vilain Eric

Funder

Center for Duchenne Muscular Dystrophy, University of California, Los Angeles

National Center for Advancing Translational Sciences (US)

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13073-017-0479-0.pdf

Reference11 articles.

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2. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369(16):1502–11.

3. Tattini L, D’Aurizio R, Magi A. Detection of genomic structural variants from next-generation sequencing data. Front Bioeng Biotechnol. 2015;3:92.

4. Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, et al. Mapping copy number variation by population-scale genome sequencing. Nature. 2011;470(7332):59–65.

5. English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, et al. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015;16:286.

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