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UnknownvisPIG--a web tool for producing multi-region, multi-track, multi-scale plots of genetic data.
We present VISual Plotting Interface for Genetics (visPIG; http://vispig.icr.ac.uk), a web application to produce multi-track, multi-scale, multi-region plots of genetic data. visPIG has been designed to allow users not well versed with mathematical software packages and/or programming languages suc...
S-EPMC4160258 | biostudies-literature
UnknownInvestigating the genetic relationship between Alzheimer's disease and cancer using GWAS summary statistics.
Growing evidence from both epidemiology and basic science suggest an inverse association between Alzheimer's disease (AD) and cancer. We examined the genetic relationship between AD and various cancer types using GWAS summary statistics from the IGAP and GAME-ON consortia. Sample size ranged from 99...
S-EPMC5693762 | biostudies-literature
UnknownVariation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.
To identify new risk loci for colorectal cancer (CRC), we conducted a meta-analysis of seven genome-wide association studies (GWAS) with independent replication, totalling 13 656 CRC cases and 21 667 controls of European ancestry. The combined analysis identified a new risk association for CRC at 2q...
S-EPMC5081051 | biostudies-literature
UnknownGenetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology.
The clustering of different types of B-cell malignancies in families raises the possibility of shared aetiology. To examine this, we performed cross-trait linkage disequilibrium (LD)-score regression of multiple myeloma (MM) and chronic lymphocytic leukaemia (CLL) genome-wide association study (GWAS...
S-EPMC6315026 | biostudies-literature
UnknownGermline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study.

Purpose

Identification of single-nucleotide polymorphisms (SNP) associated with development of advanced colorectal adenomas.

Experimental design

Discovery phase: 1,406 Caucasian patients (139 advanced adenoma cases and 1,267 controls) from the Adenoma Prevention with Celecoxib (APC) t...
S-EPMC4037290 | biostudies-literature
UnknownWhole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours.
Testicular germ cell tumours (TGCTs) are the most common cancer in young men. Here we perform whole-exome sequencing (WES) of 42 TGCTs to comprehensively study the cancer's mutational profile. The mutation rate is uniformly low in all of the tumours (mean 0.5 mutations per Mb) as compared with commo...
S-EPMC4338546 | biostudies-literature
UnknownComprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.
Juvenile polyposis syndrome (JPS; OMIM 174900) is a rare disorder which is characterized by the presence of hamartomatous polyps throughout the gastrointestinal tract and an increased risk of gastrointestinal malignancy. Mutations of the SMAD4 gene on chromosome 18q21.1 have been shown to cause a su...
S-EPMC1850516 | biostudies-literature
UnknownGenomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.
Genomewide linkage searches aimed at identifying disease susceptibility loci are generally conducted using 300-400 microsatellite markers. Genotyping bi-allelic single nucleotide polymorphisms (SNPs) provides an alternative strategy. The availability of dense SNP maps coupled with recent technologic...
S-EPMC534642 | biostudies-literature
UnknownLow frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.
Germline mutations in the fumarate hydratase gene at 1q43 predispose to dominantly inherited skin and uterine leiomyomata and leiomyosarcomas. The enzyme, which is a component of the tricarboxylic acid cycle, acts as a tumour suppressor. To evaluate fumarate hydratase in respective sporadic tumours,...
S-EPMC2376129 | biostudies-literature
UnknownAssociation between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.

Background

There is variability in the outcome of patients with chronic lymphocytic leukemia with apparently the same stage of disease. Identifying genetic variants that influence patients' outcome and response to treatment may provide important insights into the biology of the disease.

D...

S-EPMC3186311 | biostudies-literature
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