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We believe this data represents a useful resource to understand the central nervous system in macaque.
We characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria.
Combining these findings with conservation data, we identify 19,175 potentially functional lncRNAs in the human genome.
Multiethnic associations between T2D and SNPs at TCF7L2, CAPN10 and HHEX extend to Sub-Saharan Africa, specifically Sudan
The methylation variation in the promoter region of CD14 gene did not explain the asthma and allergy contrast between Finnish and Russian Karelian children
The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.
Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
Identified an association between polymorphisms in a long intergenic non-coding RNA (lincRNA) gene (AC011288.2) and pneumococcal bacteremia
A researcher's work from 20 years ago has helped to crack one of biology’s biggest mysteries.
Once upon a time it was infectious diseases like polio, measles or tuberculosis that most worried parents. With these threats now largely under control, parents face a new challenge – sky-rocketing rates of non-infectious diseases such as asthma, allergies and autism.