Documentation of clinically relevant genomic biomarker allele frequencies in the next‐generation FINDbase worldwide database-Reference-Cited by-同舟云学术

Documentation of clinically relevant genomic biomarker allele frequencies in the next‐generation FINDbase worldwide database

Published:2020-04-14 Issue:6 Volume:41 Page:1112-1122
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kounelis Fotios¹,Kanterakis Alexandros²³^ORCID,Kanavos Andreas¹³,Pandi Maria‐Theodora³⁴,Kordou Zoe³,Manusama Olivia⁵,Vonitsanos Gerasimos¹³,Katsila Theodora³,Tsermpini Evangelia‐Eirini³,Lauschke Volker M.⁶^ORCID,Koromina Maria³,Spek Peter J.⁴,Patrinos George P.³⁴⁷⁸^ORCID

Affiliation:

1. Department of Computer Engineering and Informatics, Faculty of EngineeringUniversity of Patras Patras Greece

2. Biomedical Informatics LaboratoryFoundation of Research and Technology Hellas Heraklion Greece

3. Department of Pharmacy, School of Health SciencesUniversity of Patras Patras Greece

4. Bioinformatics Unit, Department of Pathology, Faculty of Medicine and Health Sciences, Medical CenterErasmus University Rotterdam The Netherlands

5. Department of Immunology, Faculty of Medicine and Health SciencesErasmus University Medical Center Rotterdam The Netherlands

6. Department of Physiology and PharmacologyKarolinska Institutet Stockholm Sweden

7. Zayed Center of Health SciencesUnited Arab Emirates University Al‐Ain United Arab Emirates

8. Department of Pathology, College of Medicine and Health SciencesUnited Arab Emirates University Al‐Ain United Arab Emirates

Funder

General Secretariat for Research and Technology

European Commission

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24018

Reference17 articles.

1. FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide

2. LOVD v.2.0: the next generation in gene variant databases

3. FINDbase: a worldwide database for genetic variation allele frequencies updated

4. Population-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase

5. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

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