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We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22).(More)
The creation of golden standard datasets is a costly business. Optimally more than one judgment per document is obtained to ensure a high quality on annotations. In this context, we explore how much annotations from experts differ from each other, how different sets of annotations influence the ranking of systems and if these annotations can be obtained(More)
The ImageCLEF 2010 Photo Annotation Task poses the challenge of automated annotation of 93 visual concepts in Flickr photos. The participants were provided with a training set of 8,000 Flickr images including annotations, EXIF data and Flickr user tags. Testing was performed on 10,000 Flickr images, differentiated between approaches considering solely(More)
Multilabel classification using ontology information is an emerging research area that combines machine learning methods with knowledge models. The performance assessment of such classification systems poses new challenges. We propose an evaluation measure that considers the mapping of label sets to their groundtruth and allows for the incorporation of real(More)
Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected(More)
Mutations in the human gene MCPH1 cause primary microcephaly associated with a unique cellular phenotype with premature chromosome condensation (PCC) in early G2 phase and delayed decondensation post-mitosis (PCC syndrome). The gene encodes the BRCT-domain containing protein microcephalin/BRIT1. Apart from its role in the regulation of chromosome(More)
Recent genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and other previous studies showed distinctly differing facial distance measurements when comparing unaffected relatives of NSCL/P patients with normal controls. Here, we test the(More)
Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC formation, epithelial-mesenchymal transition, migration along distinct paths, and differentiation. Errors in these processes lead to craniofacial abnormalities, including cleft lip and palate. Clefts are(More)
The ImageCLEF 2011 Photo Annotation and Concept-based Retrieval Tasks pose the challenge of an automated annotation of Flickr images with 99 visual concepts and the retrieval of images based on query topics. The participants were provided with a training set of 8,000 images including annotations, EXIF data, and Flickr user tags. The annotation challenge was(More)
Mood or emotion information are often used search terms or navigation properties within multimedia archives, retrieval systems or multimedia players. Most of these applications engage end-users or experts to tag multimedia objects with mood annotations. Within the scientific community different approaches for content-based music, photo or multimodal mood(More)