User profiles for John P. Didion
John Paul Didion, PhDSenior Director of Bioinformatics, Apton Biosystems Verified email at aptonbio.com Cited by 3580 |
Subspecific origin and haplotype diversity in the laboratory mouse
Here we provide a genome-wide, high-resolution map of the phylogenetic origin of the genome
of most extant laboratory mouse inbred strains. Our analysis is based on the genotypes …
of most extant laboratory mouse inbred strains. Our analysis is based on the genotypes …
[HTML][HTML] Coexistent ARID1A–PIK3CA mutations promote ovarian clear-cell tumorigenesis through pro-tumorigenic inflammatory cytokine signalling
Ovarian clear-cell carcinoma (OCCC) is an aggressive form of ovarian cancer with high
ARID1A mutation rates. Here we present a mutant mouse model of OCCC. We find that ARID1A …
ARID1A mutation rates. Here we present a mutant mouse model of OCCC. We find that ARID1A …
Analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalance
Complex human traits are influenced by variation in regulatory DNA through mechanisms
that are not fully understood. Because regulatory elements are conserved between humans …
that are not fully understood. Because regulatory elements are conserved between humans …
Genetic regulatory signatures underlying islet gene expression and type 2 diabetes
…, S Vadlamudi, ME Cannon, JP Didion… - Proceedings of the …, 2017 - National Acad Sciences
Genome-wide association studies (GWAS) have identified >100 independent SNPs that
modulate the risk of type 2 diabetes (T2D) and related traits. However, the pathogenic …
modulate the risk of type 2 diabetes (T2D) and related traits. However, the pathogenic …
The mouse universal genotyping array: from substrains to subspecies
Genotyping microarrays are an important resource for genetic mapping, population genetics,
and monitoring of the genetic integrity of laboratory stocks. We have developed the third …
and monitoring of the genetic integrity of laboratory stocks. We have developed the third …
[HTML][HTML] Atropos: specific, sensitive, and speedy trimming of sequencing reads
A key step in the transformation of raw sequencing reads into biological insights is the
trimming of adapter sequences and low-quality bases. Read trimming has been shown to …
trimming of adapter sequences and low-quality bases. Read trimming has been shown to …
[HTML][HTML] The genetic regulatory signature of type 2 diabetes in human skeletal muscle
Type 2 diabetes (T2D) results from the combined effects of genetic and environmental factors
on multiple tissues over time. Of the >100 variants associated with T2D and related traits in …
on multiple tissues over time. Of the >100 variants associated with T2D and related traits in …
[HTML][HTML] Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures
Objective Type 2 diabetes (T2D) is a complex disease characterized by pancreatic islet
dysfunction, insulin resistance, and disruption of blood glucose levels. Genome-wide association …
dysfunction, insulin resistance, and disruption of blood glucose levels. Genome-wide association …
Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle
…, PS Chines, A Swift, J Idol, JP Didion… - Proceedings of the …, 2019 - National Acad Sciences
We integrate comeasured gene expression and DNA methylation (DNAme) in 265 human
skeletal muscle biopsies from the FUSION study with >7 million genetic variants and eight …
skeletal muscle biopsies from the FUSION study with >7 million genetic variants and eight …
[HTML][HTML] A multi-megabase copy number gain causes maternal transmission ratio distortion on mouse chromosome 2
Significant departures from expected Mendelian inheritance ratios (transmission ratio
distortion, TRD) are frequently observed in both experimental crosses and natural populations. …
distortion, TRD) are frequently observed in both experimental crosses and natural populations. …