VariantDB: a flexible annotation and filtering portal for next generation sequencing data-Reference-Cited by-同舟云学术

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VariantDB: a flexible annotation and filtering portal for next generation sequencing data

Published:2014-10 Issue:10 Volume:6 Page:
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Med

Author:

Vandeweyer Geert,Van Laer Lut,Loeys Bart,Van den Bulcke Tim,Kooy R Frank

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13073-014-0074-6.pdf

Reference62 articles.

1. Vandeweyer G, Kooy RF: Detection and interpretation of genomic structural variation in health and disease. Expert Rev Mol Diagn. 2013, 13: 61-82. 10.1586/erm.12.119.

2. Vissers LELM, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA: A de novo paradigm for mental retardation. Nat Genet. 2010, 42: 1109-1112. 10.1038/ng.712.

3. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J: Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011, 12: 745-755. 10.1038/nrg3031.

4. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE: Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012, 367: 1921-1929. 10.1056/NEJMoa1206524.

5. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet. 2011, 43: 585-589. 10.1038/ng.835.

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