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Multiscale mobility networks and the spatial spreading of infectious diseases
We analyze mobility data from 29 countries around the world and find a gravity model able to provide a global description of commuting patterns up to 300 kms and (ii) integrate in a worldwide-structured metapopulation epidemic model. Expand
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MicroRNA, mRNA, and protein expression link development and aging in human and macaque brain.
Changes in gene expression levels determine differentiation of tissues involved in development and are associated with functional decline in aging. Although development is tightly regulated, theExpand
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Common diseases are often complex because they are genetically heterogeneous, with many different genetic defects giving rise to clinically indistinguishable phenotypes. This has been amplyExpand
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VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix
The need for improved algorithmic support for variant prioritization and disease‐gene identification in personal genomes data is widely acknowledged. We previously presented the Variant Annotation,Expand
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A probabilistic disease-gene finder for personal genomes.
VAAST (the Variant Annotation, Analysis & Search Tool) is a probabilistic search tool for identifying damaged genes and their disease-causing variants in personal genome sequences. VAAST builds onExpand
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Estimating accuracy of RNA-Seq and microarrays with proteomics
BackgroundMicroarrays revolutionized biological research by enabling gene expression comparisons on a transcriptome-wide scale. Microarrays, however, do not estimate absolute expression levelExpand
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Increased Circulating Levels of Betatrophin in Newly Diagnosed Type 2 Diabetic Patients
OBJECTIVE Betatrophin, a newly identified hormone, has been recently characterized as a potent stimulator that increases the production and expansion of insulin-secreting β-cells in mice, but theExpand
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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
BackgroundMolecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and canExpand
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Widespread expression of piRNA-like molecules in somatic tissues
Piwi-interacting RNA (piRNA) are small RNA abundant in the germline across animal species. In fruit flies and mice, piRNA have been implicated in maintenance of genomic integrity by transposableExpand
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A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
The discovery of mutations causing human disease has so far been biased toward protein-coding regions. Having excluded all annotated coding regions, we performed targeted massively parallelExpand
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