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The Human Variome Project and Global Globin Challenge

Author(s)
WARDAH YUSOF Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, 16150 Kelantan, Malaysia.
HASHIM HALIM-FIKRI Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, 16150 Kelantan, Malaysia.
BIN ALWI ZILFALIL Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, 16150 Kelantan, Malaysia.
Abstract
With precision medicine, disease treatment and prevention will consider individual genetic variability, environment, and lifestyle of every patient. The emergence of precision or personalised medicine in parallel with the advancement of high-throughput genetic analysis allow researchers to scan the genome for genetic variations linked to diseases, generating unprecedented influx of raw genetic variation data worldwide. The Human Variome Project was initiated to address the issues of genetic variation data collection, ethical, legal, and socio-cultural challenges. The systematic curation of genomic information from all over the world will provide the much-needed link between individual genomic information and personalised medicine to improve individual health care. Global Globin 2020 Challenge is an initiative under Human Variome Project that aims to utilise the development in human genomics; focusing on hemoglobinopathies, encompassing a systematic genetic variation data curation, and sharing in low-middle income countries with its focus on thalassaemia and sickle cell disease. With genomic knowledge informing our understanding of genetic diseases at molecular level, the health system in these countries will greatly be impacted.
Publication Details
Page(s) 202-206
DOI DOI not available
Published Journal: Pakistan Paediatric Journal, Volume: 41, Issue: 4, Year: 2017

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Keywords
Human Variome Project, Precision medicine, Global Globin Challenge
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