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A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

These results highlight how UNICORN can enable reliable, powerful, and convenient genetic association analyses without access to the individual-level data

Fine mapping under linkage peaks for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil

The transforming growth factor-beta pathway is important in the immunopathogenesis of Visceral leishmaniasis

Mapping mammalian cell-type-specific transcriptional regulatory networks using KD-CAGE and ChIP-seq data in the TC-YIK cell line.

Examining the overlap between genes perturbed in the KD-CAGE experiments and genes with a ChIP-seq peak within 50 kb of their promoter, we identified direct...

Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based Data

Here we compare the performance of several LMM approaches (and software implementations, including EMMAX, GenABEL, FaST-LMM, Mendel, GEMMA and MMM) via their...

Genetic and functional evidence for a locus controlling otitis media at chromosome 10q26.3

Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation.

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1.

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

A conditional analysis provided evidence for multiple associations within the HLA-DRB1-HLA-DQA1 region,and a model in which risk differed between three...

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly...

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia,...