2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-GestaltMatcher Database - a FAIR database for medical imaging data of rare diseases

GestaltMatcher Database - a FAIR database for medical imaging data of rare diseases

Pdf Summary

The GestaltMatcher Database (GMDB) is a comprehensive database for medical imaging data of rare disorders. It is designed to provide easy access to images related to specific genes or syndromes of interest. The database serves as a valuable resource for both humans and computers, as it not only allows users to search for and view images, but also enhances artificial intelligence algorithms by collecting labeled data.<br /><br />The GMDB is accessible to the scientific community through the dedicated website. Access to the database is strictly controlled, with registration only possible through an invitation link. Researchers can also download the dataset for training their own artificial intelligence systems after submitting an IRB-approved research proposal. Patients can access their own data at any time, but do not have access to other cases in the GMDB. This patient-centric approach ensures privacy and data security.<br /><br />The GMDB database promotes interoperability by showcasing a photo version of the gene matching platform. While existing platforms like GeneMatcher match patients based on sequencing information, GMDB adds a phenotypic matching component. This inclusion makes it a valuable node within the MME (Matchmaker Exchange) network.<br /><br />Furthermore, the GMDB supports data reusability, allowing users to analyze and compare their cases with existing data stored in the database. Researchers can make use of the data in the GMDB to conduct detailed analysis and comparisons, including referencing cases from the literature.<br /><br />Overall, the GestaltMatcher Database (GMDB) provides a valuable resource for medical imaging data of rare disorders. It offers easy findability and accessibility for both humans and computers, promotes interoperability within the scientific community, and supports data reusability for analysis and comparisons.

Asset Subtitle

Presenting Author - Hellen Lesmann, MD; Co-Author - Shahida Moosa, Dr.; Co-Author - Tori Pantel, Dr.; Co-Author - Stanislav Rosnev, Dr.; Co-Author - Alexander Hustinx, MS.; Co-Author - Behnam Javanmardi, PhD; Co-Author - Alexej Knaus, PhD; Co-Author - Tom Kamphans, PhD; Co-Author - Wolfgang Meiswinkel, MS; Co-Author - Jing-Mei Li, PhD; Co-Author - Merle ten Hagen, MD; Co-Author - Pilar Caro, PhD; Co-Author - Clara Velmans, MD; Co-Author - Matthias Höller, MD; Co-Author - Ibrahim Abdelrazek, MD; Co-Author - Gehad Elmakkawy, MD; Co-Author - Khoushoua Alaadin, MD; Co-Author - Kimberly Christine Coetzer, PhD; Co-Author - Frédéric Ebstein, PhD; Co-Author - Sebastian KÜRY, PhD; Co-Author - Ebtesam Abdalla, MD; Co-Author - Miriam Elbracht, MD; Co-Author - Cordula Knopp, MD; Co-Author - Annabelle Arlt, MD; Co-Author - Claudio Graziano, MD; Co-Author - Borovikov Artem, MD; Co-Author - Annette UWINEZA, MD; Co-Author - Felix Marbach, MD; Co-Author - Christian Netzer, MD; Co-Author - Rami Abou Jamra, MD; Co-Author - Markus Nöthen, MD; Co-Author - Gholson Lyon, MD PhD; Co-Author - Peter Krawitz, MD, PhD; Co-Author - Tzung-Chien Hsieh, PhD;

Meta Tag

Bioinformatics

Databases

Delineation of Diseases

Dysmorphology

Genotype-Phenotype Correlations

Phenotype

Phenotypic delineation of disorders

Co-Author Shahida Moosa, Dr.

Co-Author Tori Pantel, Dr.

Co-Author Stanislav Rosnev, Dr.

Co-Author Alexander Hustinx, MS.

Co-Author Behnam Javanmardi, PhD

Co-Author Alexej Knaus, PhD

Co-Author Tom Kamphans, PhD

Co-Author Wolfgang Meiswinkel, MS

Co-Author Jing-Mei Li, PhD

Co-Author Merle ten Hagen, MD

Co-Author Pilar Caro, PhD

Co-Author Clara Velmans, MD

Co-Author Matthias Höller, MD

Co-Author Ibrahim Abdelrazek, MD

Co-Author Gehad Elmakkawy, MD

Co-Author Khoushoua Alaadin, MD

Co-Author Kimberly Christine Coetzer, PhD

Co-Author Frédéric Ebstein, PhD

Co-Author Sebastian KÜRY, PhD

Co-Author Ebtesam Abdalla, MD

Co-Author Miriam Elbracht, MD

Co-Author Cordula Knopp, MD

Co-Author Annabelle Arlt, MD

Co-Author Claudio Graziano, MD

Co-Author Borovikov Artem, MD

Co-Author Annette UWINEZA, MD

Co-Author Felix Marbach, MD

Co-Author Christian Netzer, MD

Co-Author Rami Abou Jamra, MD

Co-Author Markus Nöthen, MD

Co-Author Gholson Lyon, MD PhD

Co-Author Peter Krawitz, MD, PhD

Co-Author Tzung-Chien Hsieh, PhD

Presenting Author Hellen Lesmann, MD

Keywords

GestaltMatcher Database

GMDB

medical imaging data

rare disorders

specific genes

syndromes

artificial intelligence algorithms

data privacy

interoperability

data reusability