The GenomeAsia 100K Project enables genetic discoveries across Asia

Wall, Jeffrey D.; Stawiski, Eric; Ratan, Aakrosh; Kim, Hie Lim; Kim, Changhoon; Gupta, Ravi; Suryamohan, Kushal; Gusareva, Elena S.; Purbojati, Rikky W.; Bhangale, Tushar; Stepanov, Vadim; Kharkov, V. N.; Schröder, Markus S.; Ramprasad, Vedam; Tom, Jennifer; Durinck, Steffen; Bei, Qixin; Li, Jiani; Guillory, Joseph; Sameer, Phalkek; Basu, Analabha; Stinson, Jeremy; Nair, Sandhya; Malaichamy, Sivasankar; Biswas, Nidhan K.; Chambers, John C.; Cheng, Keith C.; George, Joyner T.; Khor, Seik‐Soon; Kim, Jong‐Il; Cho, Belong; Menon, Ramesh; Sattibabu, Thiramsett; Bassi, Akshi; Deshmukh, Manjari; Verma, Anjali; Gopalan, Vivek; Shin, Jong-Yeon; Pratapneni, Mahesh; Santhosh, Sam; Tokunaga, Katsushi; Md-Zain, Badrul Munir; Chan, Kok Gan; Parani, Madasamy; Natarajan, Purushothaman; Hauser, Michael A.; Allingham, R. Rand; Santiago-Turla,; Ghosh, Arkasubhra; Gadde, Santosh Gopi Krishna; Fuchsberger, Christian; Forer, Lukas; Schoenherr, Sebastian; Sudoyo, Herawati; Lansing, J. Stephen; Friedlaender, Jonathan S.; Koki, George; Cox, Murray P.; Hammer, Michael F.; Karafet, Tatiana M.; Ang, K.C.; Mehdi, S. Qasim; Radha, Venkatesan; Mohan, Viswanathan; Majumder, Partha P.; Seshagiri, Somasekar; Seo, Jeong‐Sun; Schuster, Stephan C.; Peterson, Andrew S.

doi:10.1038/s41586-019-1793-z

Cited by 310 publications

(218 citation statements)

References 71 publications

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“…Without this representation, the success and benefits of genomic medicine will be disproportionately less. For this reason, efforts are being undertaken around the globe to produce BVDs for previously excluded populations recognizing that both affiliated policies and scientific infrastructure are required (29)(30)(31)(32).…”

Section: Reasons For Health Inequities In Genomic Medicine In Indigenmentioning

confidence: 99%

Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts

Caron

Chongo

Hudson

et al. 2020

Front. Public Health

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Section: Reasons For Health Inequities In Genomic Medicine In Indigenmentioning

confidence: 99%

Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts

Caron

Chongo

Hudson

et al. 2020

Front. Public Health

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“…HLoF variants have also been identified in genes that affect disease risk (Karczewski et al, 2020), e.g., ACTN3, which is associated with ageing (Yang et al, 2003), HAO1, which is associated with kidney dysfunction (McGregor et al, 2020), and LRRK2, which is associated with Parkinson's disease (Whiffin et al, 2020). Similarly, in a recent analysis of 219 populations from 64 countries across Asia, it was reported that 43% of all proteincoding genes contain at least one protein-truncating variant, suggesting that HLoF variants can be well tolerated (Wall et al, 2019). In addition, a study of more than 500,000 human genomes examining 874 genes reported 13 individuals with disease-causing mutations in eight different genes, with two individuals carrying HLoF mutations leading to PTCs, although with no reported clinical manifestation of disease (Chen et al, 2016b).…”

Section: Is Transcriptional Adaptation Important In the Context Of Humentioning

confidence: 99%

Transcriptional adaptation: a mechanism underlying genetic robustness

Sztal

Stainier

2020

Development

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Mutations play a crucial role in evolution as they provide the genetic variation that allows evolutionary change. Although some mutations in regulatory elements or coding regions can be beneficial, a large number of them disrupt gene function and reduce fitness. Organisms utilize several mechanisms to compensate for the damaging consequences of genetic perturbations. One such mechanism is the recently identified process of transcriptional adaptation (TA): during this event, mutations that cause mutant mRNA degradation trigger the transcriptional modulation of so-called adapting genes. In some cases, for example when one (or more) of the upregulated genes is functionally redundant with the mutated gene, this process compensates for the loss of the mutated gene's product. Notably, unlike other mechanisms underlying genetic robustness, TA is not triggered by the loss of protein function, an observation that has prompted studies into the machinery of TA and the contexts in which it functions. Here, we review the discovery and current understanding of TA, and discuss how its main features appear to be conserved across species. In light of these findings, we also speculate on the importance of TA in the context of human disease, and provide some recommendations for genome-editing strategies that should be more effective.

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“…Currently, the majority of DNA used for research studies come from participants of European descent, with only 2% of data contributed from African data sets (64). In response, a new pan-Africa biobank start-up, 54-gene (64) and additionally, the first pan-Asia biobank have launched (65), both with the aim of solving the problem of lack of global representation. Similar initiatives are found in Brazil (66).…”

Section: Lmic-based Data Repositories and Biobanksmentioning

confidence: 99%

Cardiometabolic Risk Factors in Pregnancy and Implications for Long-Term Health: Identifying the Research Priorities for Low-Resource Settings

Nagraj

Kennedy

Norton

et al. 2020

Front. Cardiovasc. Med.

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Cardiometabolic disorders (CMDs), including ischemic heart disease, stroke and type 2 diabetes are the leading causes of mortality and morbidity in women worldwide. The burden of CMDs falls disproportionately on low and middle-income countries (LMICs), placing substantial demands on already pressured health systems. Cardiometabolic disorders may present up to a decade earlier in some LMIC settings, and are associated with high-case fatality rates. Early identification and ongoing postpartum follow-up of women with pregnancy complications such as hypertensive disorders of pregnancy (HDPs), and gestational diabetes mellitus (GDM) may offer opportunities for prevention, or help delay onset of CMDs. This mini-review paper presents an overview of the key challenges faced in the early identification, referral and management of pregnant women at increased risk of CMDs, in low-resource settings worldwide. Evidence-based strategies, including novel diagnostics, technology and innovations for early detection, screening and management for pregnant women at high-risk of CMDs are presented. The review highlights the key research priorities for addressing cardiometabolic risk in pregnancy in low-resource settings.

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The GenomeAsia 100K Project enables genetic discoveries across Asia

Cited by 310 publications

References 71 publications

Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts

Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts

Transcriptional adaptation: a mechanism underlying genetic robustness

Cardiometabolic Risk Factors in Pregnancy and Implications for Long-Term Health: Identifying the Research Priorities for Low-Resource Settings

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