Effective filtering strategies to improve data quality from population-based whole exome sequencing studies-Reference-Cited by-同舟云学术

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Effective filtering strategies to improve data quality from population-based whole exome sequencing studies

Published:2014-05-02 Issue:1 Volume:15 Page:
ISSN:1471-2105
Container-title:BMC Bioinformatics
language:en
Short-container-title:BMC Bioinformatics

Author:

Carson Andrew R,Smith Erin N,Matsui Hiroko,Brækkan Sigrid K,Jepsen Kristen,Hansen John-Bjarne,Frazer Kelly A

Publisher

Springer Science and Business Media LLC

Subject

Applied Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Structural Biology

Link

https://link.springer.com/content/pdf/10.1186/1471-2105-15-125.pdf

Reference44 articles.

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2. Pritchard JK, Cox NJ: The allelic architecture of human disease genes: common disease-common variant…or not?. Hum Mol Genet. 2002, 11 (20): 2417-2423. 10.1093/hmg/11.20.2417.

3. Kryukov GV, Pennacchio LA, Sunyaev SR: Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet. 2007, 80 (4): 727-739. 10.1086/513473.

4. Kryukov GV, Shpunt A, Stamatoyannopoulos JA, Sunyaev SR: Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci U S A. 2009, 106 (10): 3871-3876. 10.1073/pnas.0812824106.

5. Kiezun A, Garimella K, Do R, Stitziel NO, Neale BM, McLaren PJ, Gupta N, Sklar P, Sullivan PF, Moran JL, Hultman CM, Lichtenstein P, Magnusson P, Lehner T, Shugart YY, Price AL, de Bakker PI, Purcell SM, Sunyaev SR: Exome sequencing and the genetic basis of complex traits. Nat Genet. 2012, 44 (6): 623-630. 10.1038/ng.2303.

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