Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

International audienceAutism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs

Fusion moves for graph matching

We contribute to approximate algorithms for the quadratic assignment problem also known as graph matching. Inspired by the success of the fusion moves technique developed for multilabel discrete Markov random fields, we investigate its applicability to graph matching. In particular, we show how fusion moves can be efficiently combined with the dedicated state-of-the-art dual methods that have recently shown superior results in computer vision and bioimaging applications. As our empirical evaluation on a wide variety of graph matching datasets suggests, fusion moves significantly improve performance of these methods in terms of speed and quality of the obtained solutions. Our method sets a new state-of-the-art with a notable margin with respect to its competitors

A comparative study of graph matching algorithms in computer vision

The graph matching optimization problem is an essential component for many tasks in computer vision, such as bringing two deformable objects in correspondence. Naturally, a wide range of applicable algorithms have been proposed in the last decades. Since a common standard benchmark has not been developed, their performance claims are often hard to verify as evaluation on differing problem instances and criteria make the results incomparable. To address these shortcomings, we present a comparative study of graph matching algorithms. We create a uniform benchmark where we collect and categorize a large set of existing and publicly available computer vision graph matching problems in a common format. At the same time we collect and categorize the most popular open-source implementations of graph matching algorithms. Their performance is evaluated in a way that is in line with the best practices for comparing optimization algorithms. The study is designed to be reproducible and extensible to serve as a valuable resource in the future. Our study provides three notable insights: 1.) popular problem instances are exactly solvable in substantially less than 1 second and, therefore, are insufficient for future empirical evaluations; 2.) the most popular baseline methods are highly inferior to the best available methods; 3.) despite the NP-hardness of the problem, instances coming from vision applications are often solvable in a few seconds even for graphs with more than 500 vertices

Early developmental regression in autism spectrum disorder: Evidence from an international multiplex sample

The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred in 23.9% of individuals. The observed concordance rate for EDR within sibling pairs (18.9%) was not significantly above the rate expected under independence (13.5%, p = 0.10). The rate of regression in individuals with ASD from multiplex families was similar to that reported in singleton and epidemiological samples. Regression concordance data were not supportive of a separate familial influence on EDR, other than as a part of autism itself. © Springer Science+Business Media, LLC 2010

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs