A5069013039- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Genetic Associations and Epidemiology
- Genomics and Phylogenetic Studies
- Genomics and Rare Diseases
- Astronomy and Astrophysical Research
- Bioinformatics and Genomic Networks
- Cancer Genomics and Diagnostics
- Genetic diversity and population structure
- Bat Biology and Ecology Studies
- Enzyme Structure and Function
- Molecular spectroscopy and chirality
- Ocular Oncology and Treatments
- Morphological variations and asymmetry
- Biomedical Text Mining and Ontologies
- Stellar, planetary, and galactic studies
- Advanced X-ray Imaging Techniques
- Gene expression and cancer classification
- Molecular Biology Techniques and Applications
- Machine Learning in Materials Science
Jackson Laboratory
2021-2024
College of the Atlantic
2021
Diamond Light Source
2015
Synchrotron light source facilities worldwide generate terabytes of data in numerous incompatible formats from a wide range experiment types. The Data Analysis WorkbeNch ( DAWN ) was developed to address the challenge providing single visualization and analysis platform for any synchrotron (including single-crystal powder diffraction, tomography spectroscopy), whilst also being sufficiently extensible new specific use case environments be incorporated e.g. ARPES, PEEM). In this work, history...
Hundreds of inbred mouse strains and intercross populations have been used to characterize the function genetic variants that contribute disease. Thousands disease-relevant traits characterized in mice made publicly available. New including consomics, collaborative cross, expanded BXD, wild-derived add existing complex disease models, mapping populations, sensitized backgrounds for engineered mutations. The genome sequences strains, along with dense genotypes from others, enable integrated...
Abstract The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards genomics healthcare. Phenopacket new GA4GH standard sharing disease phenotype information that characterizes an individual person, linking to detailed phenotypic descriptions, genetic information, diagnoses, treatments. A example presented illustrates how use the schema represent clinical course patient with retinoblastoma, including demographic diagnosis, features measurements,...
ABSTRACT Hundreds of inbred laboratory mouse strains and intercross populations have been used to functionalize genetic variants that contribute disease. Thousands disease relevant traits characterized in mice made publicly available. New including the Collaborative Cross, expanded BXD wild-derived add set complex models, mapping resources sensitized backgrounds against which evaluate engineered mutations. The genome sequences many strains, along with dense genotypes from others could allow...
The Mouse Variation Registry (MVAR) resource is a scalable registry of mouse single nucleotide variants and small indels variant annotation. accepts data in standard Variant Call Format (VCF) assesses the uniqueness submitted via canonicalization process. Novel are assigned unique, persistent MVAR identifier; that equivalent to an existing associated with identifier. Annotations for type, molecular consequence, impact, genomic region context specific transcripts protein sequences generated...
It is well understood that variation in relatedness among individuals, or kinship, can lead to false genetic associations. Multiple methods have been developed adjust for kinship while maintaining power detect true However, relatively unstudied are the effects of on interaction test statistics. Here, we performed a survey studies six commonly used mouse populations. We measured inflation main effect statistics, and statistics reparametrized by Combined Analysis Pleiotropy Epistasis (CAPE)....
The Mouse Variation Registry (MVAR) resource is a scalable registry of mouse single nucleotide variants and small indels variant annotation. accepts data in standard Variant Call Format (VCF) assesses the uniqueness submitted via canonicalization process. Novel are assigned unique, persistent MVAR identifier; that equivalent to an existing associated with identifier. Annotations for type, molecular consequence, impact, genomic region context specific transcripts protein sequences generated...
Abstract It is well understood that variation in relatedness among individuals, or kinship, can lead to false genetic associations. Multiple methods have been developed adjust for kinship while maintaining power detect true However, relatively unstudied, are the effects of on interaction test statistics. Here we performed a survey studies six commonly used mouse populations. We measured inflation main effect statistics, and statistics reparametrized by Combined Analysis Pleiotropy Epistasis...
Model organisms are essential to understanding the biological and disease consequences of human genome variation. Bioinformatics resources that support meaningful comparisons mouse genotype-to-phenotype data knowledge needed translation from bench bedside back again [<u>1</u>].