Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Link
http://www.nature.com/articles/s41467-019-10016-3.pdf
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3. Biesecker, L. G. Exome sequencing makes medical genomics a reality. Nat. Genet 42, 13–14 (2010).
4. Choi, M. et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl Acad. Sci. USA 106, 19096–19101 (2009).
5. Ng, S. B. et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet 42, 30–35 (2010).
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