Search Results - "Feupe, Stephanie"
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The impact of short tandem repeat variation on gene expression
Published in Nature genetics (01-11-2019)“…Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans. However, genome-wide studies of the effects of STRs on gene…”
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A reference haplotype panel for genome-wide imputation of short tandem repeats
Published in Nature communications (23-10-2018)“…Short tandem repeats (STRs) are involved in dozens of Mendelian disorders and have been implicated in complex traits. However, genotyping arrays used in…”
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"Closing the loop": a mixed-methods study about resident learning from outcome feedback after patient handoffs
Published in Diagnosis (Berlin, Germany) (27-11-2018)“…Background Learning patient outcomes is recognized as crucial for ongoing refinement of clinical decision-making, but is often difficult in fragmented care…”
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iCONCUR: informed consent for clinical data and bio-sample use for research
Published in Journal of the American Medical Informatics Association : JAMIA (01-03-2017)“…Background: Implementation of patient preferences for use of electronic health records for research has been traditionally limited to identifiable data. Tiered…”
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Abstract 6238: Integrated multi-omic/modal profiling enables improved characterization of oncogenic processes, with impact to clinical actionability in the GenMineTOP tested population
Published in Cancer research (Chicago, Ill.) (22-03-2024)“…Introduction: It is becoming increasingly apparent that tumor gene expression and spatial H&E profiling can be used to improve the accuracy of DNA-only tumor…”
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Nocturnal Continuous Glucose and Sleep Stage Data in Adults with Type 1 Diabetes in Real-World Conditions
Published in Journal of diabetes science and technology (01-09-2013)“…Background: Sleep plays an important role in health, and poor sleep is associated with negative impacts on diabetes management, but few studies have…”
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Deep Characterization of the Contribution of Short Tandem Repeats across Tissues
Published 01-01-2018“…High-Throughput Sequencing (HTS) and Genome-Wide Association Studies (GWAS) studies have given us unprecedented insights into the influence of Single…”
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Dissertation -
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PhenDisco: phenotype discovery system for the database of genotypes and phenotypes
Published in Journal of the American Medical Informatics Association : JAMIA (01-01-2014)“…The database of genotypes and phenotypes (dbGaP) developed by the National Center for Biotechnology Information (NCBI) is a resource that contains information…”
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The Impact of Automatic Pre-annotation in Clinical Note Data Element Extraction - the CLEAN Tool
Published 11-08-2018“…Objective. Annotation is expensive but essential for clinical note review and clinical natural language processing (cNLP). However, the extent to which…”
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Journal Article