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Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of t ...
In the last ten years, new sources of urban big data have made it possible for algorithms to increasingly control how the city is perceived, understood and managed by its inhabitants; this is the data-driven city.
New efforts in the social sciences, like ...
Transcription factors (TFs) regulate gene expression by binding to specific short DNA sequences of 5 to 20-bp to regulate the rate of transcription of genetic information from DNA to messenger RNA. We present PWMScan, a fast web-based tool to scan server-r ...
Accumulating data highlight the contribution of brain mitochondria and bioenergetics to psychiatric disorders and stress-related pathologies. Although anxiety has not received much attention in this booming literature, a bidirectional interplay between anx ...
Background: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX. Case report: A 21 year old Caucasian male from a Swiss family was investigated for decreasing central visual acuity asso ...
Computational analyses of human patient exomes aim to filter out as many nonpathogenic genetic variants (NPVs) as possible, without removing the true disease-causing mutations. This involves comparing the patient's exome with public databases to remove rep ...
Background The gut microbiome is an important determinant of human health. Its composition has been shown to be influenced by multiple environmental factors and likely by host genetic variation. In the framework of the Milieu Interieur Consortium, a total ...
Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with bial ...
Recognition and identification of real-world entities is at the core of virtually any text mining application. As a matter of fact, referential units such as names of persons, locations and organizations underlie the semantics of texts and guide their inte ...
Introduction. Oligochaetes are recognized as valuable bioindicators of sediment quality in streams and lakes. The development of an oligochaete index based on the identification of specimens using DNA barcodes requires a method for simultaneously preservin ...