Author details

Full Name

Pablo Cingolani

Affiliation

ORCID

Career Start Year

2012

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35751823	Variant Annotation and Functional Prediction: SnpEff.	Methods in Molecular Biology	2022
29360107	Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.	Sci Data	2018
29279374	Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.	Proc Natl Acad Sci U S A	2018
29257133	Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.	Sci Data	2017
28392986	Prioritisation of structural variant calls in cancer genomes.	PeerJ	2017
28341696	A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.	Diabetes	2017
28890729	Clinical application of a cancer genomic profiling assay to guide precision medicine decisions.	Per Med	2017
28443131	A Bioinformatics-Based Alternative mRNA Splicing Code that May Explain Some Disease Mutations Is Conserved in Animals.	Frontiers in Genetics	2017
27980644	Independent test assessment using the extreme value distribution theory.	BMC Proc	2016
27398621	The genetic architecture of type 2 diabetes.	Nature	2016
25189778	BigDataScript: a scripting language for data pipelines.		2015
25625282	Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.	PLoS Genet	2015
25759717	Epigenetics as an answer to Darwin's "special difficulty," Part 2: natural selection of metastable epialleles in honeybee castes.	Frontiers in Genetics	2015
26046694	Lead exposure induces changes in 5-hydroxymethylcytosine clusters in CpG islands in human embryonic stem cells and umbilical cord blood.	Epigenetics	2015
24519525	Lead exposure disrupts global DNA methylation in human embryonic stem cells and alters their neuronal differentiation.	Toxicological Sciences	2014
23516545	Positional mapping and candidate gene analysis of the mouse Ccs3 locus that regulates differential susceptibility to carcinogen-induced colorectal cancer.	PLoS ONE	2013
24079845	Intronic non-CG DNA hydroxymethylation and alternative mRNA splicing in honey bees.	BMC Genomics	2013
24068938	Genome-wide mouse mutagenesis reveals CD45-mediated T cell function as critical in protective immunity to HSV-1.	PLoS Pathog	2013
23529756	Adjusted sequence kernel association test for rare variants controlling for cryptic and family relatedness.	Genet Epidemiol	2013
23244311	Epigenetics of early-life lead exposure and effects on brain development.	Epigenomics	2012
22363534	An N-ethyl-N-nitrosourea (ENU)-induced dominant negative mutation in the JAK3 kinase protects against cerebral malaria.	PLoS One	2012
22728672	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.	Fly	2012
22435069	Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift.	Frontiers in Genetics	2012