Andrew Scott Allen

Conference medRxiv · April 17, 2023 OBJECTIVE: Relapsing polychondritis (RP) is a systemic inflammatory disease of unknown etiology. The study objective was to examine the contribution of rare genetic variations in RP. METHODS: We performed a case-control exome-wide rare variant association ... Full text Link to item Cite

Gene-Based Collapsing Genetic Analyses to Identify Rare Protein-Coding Variants Associated with Susceptibility to Idiopathic Pulmonary Fibrosis (IPF): Data from the IPF-PRO Registry

Conference AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · May 1, 2022 Link to item Cite

Association of Genetic Variants with Disease Progression in Patients with Idiopathic Pulmonary Fibrosis (IPF): Data from the IPF-PRO Registry

Conference AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · May 1, 2022 Link to item Cite

FamRVC Program for Family-based Rare Variant Association Tests for Censored Traits and its Applications to Age-at-onset of Alzheimer's Disease

Conference GENETIC EPIDEMIOLOGY · October 2019 Link to item Cite

Incorporating prior information into set-based analyses using higher criticism statistics with an application to amyotrophic lateral sclerosis

Conference GENETIC EPIDEMIOLOGY · October 1, 2018 Link to item Cite

Quantifying the Impact of Non-coding Variants on Transcription Factor-DNA Binding.

Conference Res Comput Mol Biol · May 2017 Many recent studies have emphasized the importance of genetic variants and mutations in cancer and other complex human diseases. The overwhelming majority of these variants occur in non-coding portions of the genome, where they can have a functional impact ... Full text Link to item Cite

Lifting EMMeT to OWL getting the most from SKOS

Conference Lecture Notes in Computer Science Including Subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics · January 1, 2016 SKOS and OWL are quite different but complimentary languages. SKOS is targeted at “cognitive” or “navigational” representations, that is, thesauri, controlled vocabularies, and the like. OWL is targeted at logical representations of conceptual knowledge. T ... Full text Cite