Global Biobank Meta-analysis Initiative: How can global health benefit by its use?

HUMAN GENETIC CRYOBIOBANKS AS AN INFORMATION RESOURCE FOR MEDICINE Cryogenic banks of human biological material (blood and other biological liquids, tissues, organs, gametes, etc.) may be a convenient tool for global health initiatives. Besides their direct use in blood transfusion, organ transplant...

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Bibliographic Details
Published in:Journal of global health 2023-10, Vol.13, p.03054-03054, Article 03054
Main Authors: Alpeeva, Elena V, Sharov, Konstantin S
Format: Article
Language:English
Subjects:
Appendicitis
Asthma
Biobanks
Cell culture
Chronic obstructive pulmonary disease
Comorbidity
Epigenetics
Genetic diversity
Genomes
Genotype & phenotype
Global health
Health promotion
Heart failure
Initiatives
Meta-analysis
Metadata
Stem cells
Viewpoints
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Summary:HUMAN GENETIC CRYOBIOBANKS AS AN INFORMATION RESOURCE FOR MEDICINE Cryogenic banks of human biological material (blood and other biological liquids, tissues, organs, gametes, etc.) may be a convenient tool for global health initiatives. Besides their direct use in blood transfusion, organ transplantation, burn therapy, clinical surgery, in-vitro fertilisation and other medical applications, they allow us to collect, systematise and analyse large sets of human genetic data [1,2]. Collections of human cells can also be considered as the genetic biobanks as they are used not only as a cell storage but as a means of genetic information preservation and a valuable tool for the investigation of genetic diversity and epigenetic data. Wide-association studies Genome sequencing is full in many biobanks within the GBMI TWAS and PWAS need be made and cross-validated across several biobanks Assessing genetic therapy of diseases Drug discovery is given top priority Too strong emphasis on in embryo treatment should be avoided Validating genetic findings Proprietary SLALOM, a summary statistics-based quality-control method, is developed for fine mapping [7]. Little frequency of occurrence (or low gene expressivity) along with insufficient amount of samples should be paid a special attention to avoid unreliable results Phenotype curation It is made according to the ICD codes to PheCodes for diseases and using OPCS codes for procedures [8] Filling gaps in phenotype definitions by ICD- or OPCS-based restoration may lead to inconsistent and even wrong results in some cases, especially for rare diseases with little amount of corresponding samples, or complex cases with large degree of pleiotropy and/or large number of comorbidities.
ISSN:2047-2978
2047-2986
DOI:10.7189/jogh.13.03054