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Pablo Cingolani
Pablo Cingolani
Verified email at mail.mcgill.ca - Homepage
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Cited by
Year
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.
RDM Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X
9663*2012
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
12302016
Using Drosophila melanogaster as a model for genotoxic chemical mutational studies with a new program, SnpSift
DM Ruden, P Cingolani, T Nguyen, SJ Land, X Lu
Frontiers in genetics 3, 24252, 2012
9412012
jFuzzyLogic: a java library to design fuzzy logic controllers according to the standard for fuzzy control programming
P Cingolani, J Alcalá-Fdez
International Journal of Computational Intelligence Systems 6 (sup1), 61-75, 2013
2402013
jFuzzyLogic: a robust and flexible Fuzzy-Logic inference system language implementation
P Cingolani, J Alcala-Fdez
2012 IEEE International Conference on Fuzzy Systems, 1-8, 2012
2252012
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
AR Majithia, J Flannick, P Shahinian, M Guo, MA Bray, P Fontanillas, ...
Proceedings of the National Academy of Sciences 111 (36), 13127-13132, 2014
1752014
Epigenetics of early-life lead exposure and effects on brain development
MC Senut, P Cingolani, A Sen, A Kruger, A Shaik, H Hirsch, ST Suhr, ...
Epigenomics 4 (6), 665-674, 2012
1362012
Lead exposure disrupts global DNA methylation in human embryonic stem cells and alters their neuronal differentiation
MC Senut, A Sen, P Cingolani, A Shaik, SJ Land, DM Ruden
Toxicological Sciences 139 (1), 142-161, 2014
1212014
Wang le
P Cingolani, A Platts
L, 0
116
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
A Mahajan, X Sim, HJ Ng, A Manning, MA Rivas, HM Highland, AE Locke, ...
PLoS genetics 11 (1), e1004876, 2015
1122015
Adjusted sequence kernel association test for rare variants controlling for cryptic and family relatedness
K Oualkacha, Z Dastani, R Li, PE Cingolani, TD Spector, CJ Hammond, ...
Genetic epidemiology 37 (4), 366-376, 2013
732013
Intronic non-CG DNA hydroxymethylation and alternative mRNA splicing in honey bees
P Cingolani, X Cao, RS Khetani, CC Chen, M Coon, A Sammak, ...
BMC genomics 14, 1-15, 2013
722013
Lead exposure induces changes in 5-hydroxymethylcytosine clusters in CpG islands in human embryonic stem cells and umbilical cord blood
A Sen, P Cingolani, MC Senut, S Land, A Mercado-Garcia, ...
Epigenetics 10 (7), 607-621, 2015
652015
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
A Manning, HM Highland, J Gasser, X Sim, T Tukiainen, P Fontanillas, ...
Diabetes 66 (7), 2019-2032, 2017
542017
Variant annotation and functional prediction: SnpEff
P Cingolani
Variant Calling: Methods and Protocols, 289-314, 2012
522012
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff. Fly (Austin) 6: 80–92
P Cingolani, A Platts, LL Wang, M Coon, T Nguyen, L Wang, SJ Land, ...
522012
An N-ethyl-N-nitrosourea (ENU)-induced dominant negative mutation in the JAK3 kinase protects against cerebral malaria
SE Bongfen, IG Rodrigue-Gervais, J Berghout, S Torre, P Cingolani, ...
PloS one 7 (2), e31012, 2012
432012
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees
G Jun, A Manning, M Almeida, M Zawistowski, AR Wood, TM Teslovich, ...
Proceedings of the National Academy of Sciences 115 (2), 379-384, 2018
402018
BigDataScript: a scripting language for data pipelines
P Cingolani, R Sladek, M Blanchette
Bioinformatics 31 (1), 10-16, 2015
392015
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
J Flannick, C Fuchsberger, A Mahajan, TM Teslovich, V Agarwala, ...
Scientific data 4 (1), 1-22, 2017
312017
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