Genetics.med.upenn.edu

A genome-first approach to aggregating rare genetic …

WebA genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes.Joseph Park AB, Michael G. Levin …

Actived: 7 days ago

URL: https://genetics.med.upenn.edu/a-genome-first-approach-to-aggregating-rare-genetic-variants-in-lmna-for-association-with-electronic-health-record-phenotypes/

Electronic health records and polygenic risk scores for …

WebPosted On: March 31, 2020. Share: Electronic health records and polygenic risk scores for predicting disease risk. Ruowang Li, Yong Chen, Marylyn D. Ritchie & Jason H. Moore. …

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‘Mapping’ pancreatic cells at the development of Type 1 …

WebFor the first time, researchers have revealed that during the development of Type 1 diabetes (T1D), when insulin-producing cells in the pancreas are under attack …

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Marylyn Ritchie inducted into the American College of …

WebCongratulations to Marylyn Ritchie! ACMI is an honorary College of elected Informatics Fellows from the United States and abroad who have made significant and …

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Genetic Diagnostic Laboratory

Web560 Clinical Research Building. 415 Curie Boulevard. Philadelphia, PA, 19104. The Genetic Diagnostic Laboratory is a non–profit laboratory at the University of Pennsylvania. …

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Animal Husbandry

WebContact. Protocols. On Animal Husbandry. Since all animal maintenance and subsequent breeding of transgenic mouse lines will be carried by the individual investigator, a …

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Previous Gasser Lectures

WebYear Speaker Institution ; 2016: Andrew B Singleton, PhD National Institutes of Health: 2017: Ted Dawson, MD, PhD Johns Hopkins School of Medicine: 2018: Thomas C …

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Human Genetic Variation and Gene Expression

Web2024 Penn Genetics Symposium Human Genetic Variation and Gene Expression Tuesday, April 30, 2024 9:30 am to 5 pm Gaulton Auditorium and Commons, Biomedical Research …

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Mapping RNA splicing variations in clinically accessible and

WebMapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq. Joseph K. Aicher, Paul …

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Single-cell multi-omics analysis of human pancreatic islets reveals

WebSingle-cell multi-omics analysis of human pancreatic islets reveals novel cellular states in type 1 diabetes. Maria Fasolino, Gregory W. Schwartz, Abhijeet R. Patil, …

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GENETIC DIAGNOSTIC LABORATORY UNIVERSITY OF …

WebVersion 11/02/2021 . GENETIC DIAGNOSTIC LABORATORY UNIVERSITY OF PENNSYLVANIA SCHOOL OF MEDICINE DEPARTMENT OF GENETICS 560 Clinical …

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Exome-wide evaluation of rare coding variants using electronic …

WebExome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations. Joseph Park, Anastasia M. Lucas, …

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AUTHORIZATION FOR RELEASE OF MEDICAL RECORDS

WebPlease note: There is a $20 fee associated with records that are retrieved from archives.

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MATURITY-ONSET DIABETES OF THE YOUNG (MODY) …

WebAdditionally, other testing or further physician consults may be warranted. The Genetic Diagnostic Laboratory is also an available resource to ask more questions about this …

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REQUEST FOR BECKWITH-WIEDEMANN SYNDROME (BWS) …

WebINFORMED CONSENT: GENETIC TESTING FOR BECKWITH- WIEDEMANN SYNDROME (BWS) Background: Beckwith-Wiedemann syndrome (BWS) is characterized by …

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