Search Results - "Clark, Wyatt"
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Information-theoretic evaluation of predicted ontological annotations
Published in Bioinformatics (01-07-2013)“…The development of effective methods for the prediction of ontological annotations is an important goal in computational biology, with protein function…”
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Analysis of protein function and its prediction from amino acid sequence
Published in Proteins, structure, function, and bioinformatics (01-07-2011)“…Understanding protein function is one of the keys to understanding life at the molecular level. It is also important in the context of human disease because…”
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3
Testing the ortholog conjecture with comparative functional genomic data from mammals
Published in PLoS computational biology (01-06-2011)“…A common assumption in comparative genomics is that orthologous genes share greater functional similarity than do paralogous genes (the "ortholog conjecture")…”
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4
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix
Published in Genome Biology (21-07-2023)“…Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes…”
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Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence
Published in PloS one (06-07-2018)“…Given the large and expanding quantity of publicly available sequencing data, it should be possible to extract incidence information for monogenic diseases…”
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The impact of incomplete knowledge on the evaluation of protein function prediction: a structured-output learning perspective
Published in Bioinformatics (01-09-2014)“…The automated functional annotation of biological macromolecules is a problem of computational assignment of biological concepts or ontological terms to genes…”
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7
Identifying therapeutic drug targets using bidirectional effect genes
Published in Nature communications (13-04-2021)“…Prioritizing genes for translation to therapeutics for common diseases has been challenging. Here, we propose an approach to identify drug targets with high…”
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An integrated approach to inferring gene-disease associations in humans
Published in Proteins, structure, function, and bioinformatics (15-08-2008)“…One of the most important tasks of modern bioinformatics is the development of computational tools that can be used to understand and treat human disease. To…”
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Comparative analysis of pseudogenes across three phyla
Published in Proceedings of the National Academy of Sciences - PNAS (16-09-2014)“…Significance Pseudogenes have long been considered nonfunctional elements. However, recent studies have shown they can potentially regulate the expression of…”
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Vector quantization kernels for the classification of protein sequences and structures
Published in Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing (2014)“…We propose a new kernel-based method for the classification of protein sequences and structures. We first represent each protein as a set of time series data…”
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Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms
Published in Nature communications (01-06-2015)“…Investigating genomic structural variants at basepair resolution is crucial for understanding their formation mechanisms. We identify and analyse 8,943…”
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The longitudinal kinetics of AAV5 vector integration profiles and evaluation of clonal expansion in mice
Published in Molecular therapy. Methods & clinical development (12-09-2024)“…Adeno-associated virus (AAV)-based vectors are used clinically for gene transfer and persist as extrachromosomal episomes. A small fraction of vector genomes…”
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Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016
Published in Human mutation (01-09-2019)“…The NAGLU challenge of the fourth edition of the Critical Assessment of Genome Interpretation experiment (CAGI4) in 2016, invited participants to predict the…”
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Characterization of glycan substrates accumulating in GM1 Gangliosidosis
Published in Molecular genetics and metabolism reports (01-12-2019)“…GM1 gangliosidosis is a rare autosomal recessive genetic disorder caused by the disruption of the GLB1 gene that encodes β-galactosidase, a lysosomal hydrolase…”
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Prediction of functional regulatory SNPs in monogenic and complex disease
Published in Human mutation (01-10-2011)“…Next‐generation sequencing (NGS) technologies are yielding ever higher volumes of human genome sequence data. Given this large amount of data, it has become…”
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From protein-disease associations to disease informatics
Published in Frontiers in bioscience (01-05-2008)“…Advancements in high-throughput technology and computational power have brought about significant progress in our understanding of cellular processes,…”
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Erratum: Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms
Published in Nature communications (08-09-2015)“…Nature Communications 6: Article number: 7256 (2015); Published 1 June 2015; Updated 8 September 2015 The affiliation details for Alexej Abyzov are incorrect…”
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Testing the Ortholog Conjecture with Comparative Functional Genomic Data from Mammals: e1002073
Published in PLoS computational biology (01-06-2011)“…A common assumption in comparative genomics is that orthologous genes share greater functional similarity than do paralogous genes (the "ortholog conjecture")…”
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Understanding protein function through statistical inference and evolutionary analysis
Published 01-01-2013“…The ability to characterize the functional behavior of an individual protein in a variety of different contexts is one of the cornerstones of carrying out…”
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Dissertation