26 research outputs found
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
The interpretation of non-coding variants still constitutes a major challenge in the application of whole-genome sequencing in Mendelian disease, especially for single-nucleotide and other small non-coding variants. Here we present Genomiser, an analysis framework that is able not only to score the relevance of variation in the non-coding genome, but also to associate regulatory variants to specific Mendelian diseases. Genomiser scores variants through either existing methods such as CADD or a bespoke machine learning method and combines these with allele frequency, regulatory sequences, chromosomal topological domains, and phenotypic relevance to\ua0discover variants associated to specific Mendelian disorders. Overall, Genomiser is able to identify causal regulatory variants as the\ua0top candidate in 77% of simulated whole genomes, allowing effective detection and discovery of regulatory variants in Mendelian disease
Track D Social Science, Human Rights and Political Science
Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/138414/1/jia218442.pd
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The DOE Water Cycle Pilot Study
A Department of Energy (DOE) mutli-laboratory Water Cycle Pilot Study (WCPS) investigated components of the local water budget at the Walnut River Watershed in Kansas to study the relative importance of various processes and to determine the feasibility of observational water budget closure. An extensive database of local meteorological time series and land surface characteristics was compiled. Numerical simulations of water budget components were generated and, to the extent possible, validated for three nested domains within the Southern Great Plains; the DOE Atmospheric Radiation Measurement/Cloud Atmospheric Radiation Testbed (ARM/CART), the Walnut River Watershed (WRW), and the Whitewater Watershed (WW), Kansas A 2-month Intensive Observation Period (IOP) was conducted to gather detailed observations relevant to specific details of the water budget, including fine-scale precipitation, streamflow, and soil moisture measurements not made routinely by other programs. Event and seasonal water isotope (delta 18O, delta D) sampling in rainwater, streams, soils, lakes, and wells provided a means of tracing sources and sinks within and external to the WW, WRW, and the ARM/CART domains. The WCPS measured changes in leaf area index for several vegetation types, deep groundwater variations at two wells, and meteorological variables at a number of sites in the WRW. Additional activities of the WCPS include code development toward a regional climate model with water isotope processes, soil moisture transect measurements, and water level measurements in ground water wells
Recommended from our members
The DOE Water Cycle Pilot Study
A Department of Energy (DOE) mutli-laboratory Water Cycle Pilot Study (WCPS) investigated components of the local water budget at the Walnut River Watershed in Kansas to study the relative importance of various processes and to determine the feasibility of observational water budget closure. An extensive database of local meteorological time series and land surface characteristics was compiled. Numerical simulations of water budget components were generated and, to the extent possible, validated for three nested domains within the Southern Great Plains; the DOE Atmospheric Radiation Measurement/Cloud Atmospheric Radiation Testbed (ARM/CART), the Walnut River Watershed (WRW), and the Whitewater Watershed (WW), Kansas A 2-month Intensive Observation Period (IOP) was conducted to gather detailed observations relevant to specific details of the water budget, including fine-scale precipitation, streamflow, and soil moisture measurements not made routinely by other programs. Event and seasonal water isotope (delta 18O, delta D) sampling in rainwater, streams, soils, lakes, and wells provided a means of tracing sources and sinks within and external to the WW, WRW, and the ARM/CART domains. The WCPS measured changes in leaf area index for several vegetation types, deep groundwater variations at two wells, and meteorological variables at a number of sites in the WRW. Additional activities of the WCPS include code development toward a regional climate model with water isotope processes, soil moisture transect measurements, and water level measurements in ground water wells