Posts Tagged ‘from_sk’

Price AL, Kryukov GV, de Bakker PI, Purcell SM, Staples J, Wei LJ, Sunyaev SR. Pooled association tests for rare variants in exon-resequencing studies. American Journal of Human Genetics (2010) 86: 832-838.

Sunday, February 1st, 2015

Pooled association tests for rare variants in exon-resequencing http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3032073 Simulation shows advantage of mult. rarity thresholds

Price AL, Kryukov GV, de Bakker PI, Purcell SM, Staples J, Wei LJ,
Sunyaev SR. Pooled association tests for rare variants in
exon-resequencing studies. American Journal of Human Genetics (2010)
86: 832-838.

SUMMARY

Multiple studies indicate strong association between rare variants and
resulting phenotype. This paper describes a population-genetics
simulation framework to study the influence of variant allele
frequency on the corresponding phenotype. In a prior study, causal
relationship between variants and phenotype was resolved by performing
association test on set of variants having allele frequency below a
fixed threshold. However, here it is observed that simulation
frameworks based on a variable allele frequency threshold provide
higher accuracy in association test compared to the fixed allele
frequency model. In addition, inclusion of predicted functional
effects of variants (Polyphen-2 scores) increases the accuracy of the
variable frequency threshold model. Overall, this paper describes a novel methodology, which can be
used to explore the association between rare variants and various
diseases.

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

Friday, May 9th, 2014

http://www.cell.com/ajhg/abstract/S0002-9297(14)00112-8

Atomdroid: A Computational Chemistry Tool for Mobile Platforms

Friday, May 2nd, 2014

http://pubs.acs.org/doi/abs/10.1021/ci2004219

Looping Back to Leap Forward: Transcription Enters a New Era

Monday, March 31st, 2014

http://www.sciencedirect.com/science/article/pii/S0092867414002013#