A framework for the detection of de novo mutations in family-based sequencing data

Francioli LC, Cretu-Stancu M, Garimella KV, et al. A framework for the detection of de novo mutations in family-based sequencing data. European Journal of Human Genetics. 2016;25(2):227-233

Genomic analysis of family data reveals additional genetic effects on intelligence and personality

BioRXiv version. Please see https://rubenarslan.github.io/generation_scotland_pedigree_gcta/ to access this website in a browsable form

Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority

One of the most consistent findings in autism spectrum disorder (ASD) research is a higher rate of ASD diagnosis in males than females. Despite this, remarkably little research has focused on the reasons for this disparity. Better understanding of this sex difference could lead to major advancements in the prevention or treatment of ASD in both males and females. In October of 2014, Autism Speaks and the Autism Science Foundation co-organized a meeting that brought together almost 60 clinicians, researchers, parents, and self-identified autistic individuals. Discussion at the meeting is summarized here with recommendations on directions of future research endeavors. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13229-015-0019-y) contains supplementary material, which is available to authorized users

Evaluation of Whole Genome Association Study Data in Bipolar Disorders: Potential Novel SNPs and Genes

Objective: As a result of studies of multifactorial conditions, genetic, physiological and environmental factors, the overall heritability of bipolar disorders has been estimated to be up to 70%. In this study, an analysis of genome-wide association study data using data mining algorithms has revealed single-nucleotide polymorphisms that may be the basis for the molecular etiology of bipolar disorders

A comparative analysis of rod bipolar cell transcriptomes identifies novel genes implicated in night vision

In the mammalian retina, rods and a specialised rod-driven signalling pathway mediate visual responses under scotopic (dim light) conditions. As rods primarily signal to rod bipolar cells (RBCs) under scoptic conditions, disorders that affect rod or RBC function are often associated with impaired night vision. To identify novel genes expressed by RBCs and, therefore, likely to be involved in night vision, we took advantage of the adult Bhlhe23 -/- mouse retina (that lacks RBCs) to derive the RBC transcriptome. We found that genes expressed by adult RBCs are mainly involved in synaptic structure and signalling, whereas genes that influence RBC development are also involved in the cell cycle and transcription/translation. By comparing our data with other published retinal and bipolar cell transcriptomes (where we identify RBCs by the presence of Prkca and/or Pcp2 transcripts), we have derived a consensus for the adult RBC transcriptome. These findings ought to facilitate further research into physiological mechanisms underlying mammalian night vision as well as proposing candidate genes for patients with inherited causes of night blindness.</p