The GENESIS database and tools: A decade of discovery in Mendelian genomics
Issued Date
2024-12-01
Resource Type
ISSN
00144886
eISSN
10902430
Scopus ID
2-s2.0-85205588283
Pubmed ID
39357594
Journal Title
Experimental Neurology
Volume
382
Rights Holder(s)
SCOPUS
Bibliographic Citation
Experimental Neurology Vol.382 (2024)
Suggested Citation
Danzi M.C., Powell E., Rebelo A.P., Dohrn M.F., Beijer D., Fazal S., Xu I.R.L., Medina J., Chen S., Arcia de Jesus Y., Schatzman J., Hershberger R.E., Saporta M., Baets J., Falk M., Herrmann D.N., Scherer S.S., Reilly M.M., Cortese A., Marques W., Carnejo-Olivas M.R., Sanmaneechai O., Kennerson M.L., Jordanova A., Silva T.Y.T., Pedroso J.L., Schierbaum L., Ebrahimi-Fakhari D., Peric S., Lee Y.C., Synofzik M., Tekin M., Ravenscroft G., Shy M., Basak N., Schule R., Zuchner S. The GENESIS database and tools: A decade of discovery in Mendelian genomics. Experimental Neurology Vol.382 (2024). doi:10.1016/j.expneurol.2024.114978 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/101574
Title
The GENESIS database and tools: A decade of discovery in Mendelian genomics
Author(s)
Danzi M.C.
Powell E.
Rebelo A.P.
Dohrn M.F.
Beijer D.
Fazal S.
Xu I.R.L.
Medina J.
Chen S.
Arcia de Jesus Y.
Schatzman J.
Hershberger R.E.
Saporta M.
Baets J.
Falk M.
Herrmann D.N.
Scherer S.S.
Reilly M.M.
Cortese A.
Marques W.
Carnejo-Olivas M.R.
Sanmaneechai O.
Kennerson M.L.
Jordanova A.
Silva T.Y.T.
Pedroso J.L.
Schierbaum L.
Ebrahimi-Fakhari D.
Peric S.
Lee Y.C.
Synofzik M.
Tekin M.
Ravenscroft G.
Shy M.
Basak N.
Schule R.
Zuchner S.
Powell E.
Rebelo A.P.
Dohrn M.F.
Beijer D.
Fazal S.
Xu I.R.L.
Medina J.
Chen S.
Arcia de Jesus Y.
Schatzman J.
Hershberger R.E.
Saporta M.
Baets J.
Falk M.
Herrmann D.N.
Scherer S.S.
Reilly M.M.
Cortese A.
Marques W.
Carnejo-Olivas M.R.
Sanmaneechai O.
Kennerson M.L.
Jordanova A.
Silva T.Y.T.
Pedroso J.L.
Schierbaum L.
Ebrahimi-Fakhari D.
Peric S.
Lee Y.C.
Synofzik M.
Tekin M.
Ravenscroft G.
Shy M.
Basak N.
Schule R.
Zuchner S.
Author's Affiliation
Siriraj Hospital
National Yang Ming Chiao Tung University
Deutsches Zentrum für Neurodegenerative Erkrankungen
Dorothy M. Davis Heart and Lung Research Institute
Hertie-Institut für klinische Hirnforschung
Instituto Nacional de Ciencias Neurologicas
Belgrade University School of Medicine
The Children's Hospital of Philadelphia
Medical University of Sofia
University of Rochester Medical Center
University of Miami Leonard M. Miller School of Medicine
UCL Queen Square Institute of Neurology
Università degli Studi di Pavia
Universidade Federal de São Paulo
Faculteit Geneeskunde en Gezondheidswetenschappen
Universiteit Antwerpen
Faculty of Medicine and Health
University of Iowa Carver College of Medicine
Universidade de São Paulo
Koç Üniversitesi
The Harry Perkins Institute of Medical Research
University of Pennsylvania Perelman School of Medicine
Universitätsklinikum Heidelberg
Harvard Medical School
Uniklinik RWTH Aachen
National Yang Ming Chiao Tung University
Deutsches Zentrum für Neurodegenerative Erkrankungen
Dorothy M. Davis Heart and Lung Research Institute
Hertie-Institut für klinische Hirnforschung
Instituto Nacional de Ciencias Neurologicas
Belgrade University School of Medicine
The Children's Hospital of Philadelphia
Medical University of Sofia
University of Rochester Medical Center
University of Miami Leonard M. Miller School of Medicine
UCL Queen Square Institute of Neurology
Università degli Studi di Pavia
Universidade Federal de São Paulo
Faculteit Geneeskunde en Gezondheidswetenschappen
Universiteit Antwerpen
Faculty of Medicine and Health
University of Iowa Carver College of Medicine
Universidade de São Paulo
Koç Üniversitesi
The Harry Perkins Institute of Medical Research
University of Pennsylvania Perelman School of Medicine
Universitätsklinikum Heidelberg
Harvard Medical School
Uniklinik RWTH Aachen
Corresponding Author(s)
Other Contributor(s)
Abstract
In the past decade, human genetics research saw an acceleration of disease gene discovery and further dissection of the genetic architectures of many disorders. Much of this progress was enabled via data aggregation projects, collaborative data sharing among researchers, and the adoption of sophisticated and standardized bioinformatics analyses pipelines. In 2012, we launched the GENESIS platform, formerly known as GEM.app, with the aims to 1) empower clinical and basic researchers without bioinformatics expertise to analyze and explore genome level data and 2) facilitate the detection of novel pathogenic variation and novel disease genes by leveraging data aggregation and genetic matchmaking. The GENESIS database has grown to over 20,000 datasets from rare disease patients, which were provided by multiple academic research consortia and many individual investigators. Some of the largest global collections of genome-level data are available for Charcot-Marie-Tooth disease, hereditary spastic paraplegia, and cerebellar ataxia. A number of rare disease consortia and networks are archiving their data in this database. Over the past decade, more than 1500 scientists have registered and used this resource and published over 200 papers on gene and variant identifications, which garnered >6000 citations. GENESIS has supported >100 gene discoveries and contributed to approximately half of all gene identifications in the fields of inherited peripheral neuropathies and spastic paraplegia in this time frame. Many diagnostic odysseys of rare disease patients have been resolved. The concept of genomes-to-therapy has borne out for a number of such discoveries that let to rapid clinical trials and expedited natural history studies. This marks GENESIS as one of the most impactful data aggregation initiatives in rare monogenic diseases.