THE CURRENT HUMAN REFERENCE GENOME IS BUILT PRIMARILY FROM SAMPLES OF INDIVIDUALS WITH EUROPEAN ANCESTRY . THIS LACK OF DIVERSITY MEANS THAT GENETIC VARIANTS THAT ARE COMMON IN OTHER POPULATIONS MIGHT BE UNDERREPRESENTED OR MISSED ENTIRELY .
R E G I O N A L C H E C K - U P
scientific breakthroughs and enhance clinical outcomes . Through significant product contributions , investment in local expertise , and a comprehensive data platform , PacBio is dedicated to the success of this transformative initiative .
THE CURRENT HUMAN REFERENCE GENOME IS BUILT PRIMARILY FROM SAMPLES OF INDIVIDUALS WITH EUROPEAN ANCESTRY . THIS LACK OF DIVERSITY MEANS THAT GENETIC VARIANTS THAT ARE COMMON IN OTHER POPULATIONS MIGHT BE UNDERREPRESENTED OR MISSED ENTIRELY .
Key highlights of the partnership
Comprehensive long-read genomic data
PacBio will generate high-quality phased methylome and genomic information for a multi-thousand-sample whole genomes sequencing project , including :
• 60x HiFi depth for Pan-Asian reference genomes
• 20x HiFi depth for multiomics analysis
• 30x HiFi depth for unresolved and research cases in cancer and rare diseases
Advanced sequencing infrastructure
PacBio will establish advanced sequencing and data analysis pipelines in Singapore , including a centralised library preparation facility and sequencing laboratory for high throughput production .
“ Constructing accurate , complete genomes for all demographics relies on using the most advanced sequencing technology ,” added Henry . “ It wasn ’ t until 2022 that the final 8 % of the current European reference genome was completed , due to the complexity of certain ‘ dark ’ regions of DNA that other sequencing technologies missed or misassembled . The decision to use PacBio ’ s Revio machine means that Singapore ’ s National Precision Medicine programme will be able to deliver highly accurate and comprehensive reference genomes first time – with no pieces missing .
“ The collaboration will prove the value of creating more representative , highquality genomic data , aligning with PacBio ’ s commitment to leveraging genomics to better human health .
“ We hope it inspires other regions to explore the genetics of their population , paving the way for a future where precision medicine is truly inclusive and globally impactful .” �
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