Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2023 - nature.com
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …

The need for a human pangenome reference sequence

KH Miga, T Wang - Annual Review of Genomics and Human …, 2021 - annualreviews.org
The reference human genome sequence is inarguably the most important and widely used
resource in the fields of human genetics and genomics. It has transformed the conduct of …

[HTML][HTML] Stroke in Africa: profile, progress, prospects and priorities

RO Akinyemi, B Ovbiagele, OA Adeniji… - Nature Reviews …, 2021 - nature.com
Stroke is a leading cause of disability, dementia and death worldwide. Approximately 70% of
deaths from stroke and 87% of stroke-related disability occur in low-income and middle …

African genetic diversity and adaptation inform a precision medicine agenda

L Pereira, L Mutesa, P Tindana, M Ramsay - Nature Reviews Genetics, 2021 - nature.com
The deep evolutionary history of African populations, since the emergence of modern
humans more than 300,000 years ago, has resulted in high genetic diversity and …

From target discovery to clinical drug development with human genetics

K Trajanoska, C Bhérer, D Taliun, S Zhou, JB Richards… - Nature, 2023 - nature.com
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …

[HTML][HTML] Ancient DNA and deep population structure in sub-Saharan African foragers

M Lipson, EA Sawchuk, JC Thompson, J Oppenheimer… - Nature, 2022 - nature.com
Multiple lines of genetic and archaeological evidence suggest that there were major
demographic changes in the terminal Late Pleistocene epoch and early Holocene epoch of …

[图书][B] First farmers: the origins of agricultural societies

P Bellwood - 2023 - books.google.com
A wide-ranging and accessible introduction to the origins and histories of the first agricultural
populations in many different parts of the world This fully revised and updated second …

[HTML][HTML] Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries

Y Liang, M Pividori, A Manichaikul… - Genome …, 2022 - genomebiology.biomedcentral.com
Polygenic risk scores (PRS) are valuable to translate the results of genome-wide association
studies (GWAS) into clinical practice. To date, most GWAS have been based on individuals …

Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project

S Fatumo, A Yakubu, O Oyedele, J Popoola… - Nature Genetics, 2022 - nature.com
To leverage the genetic diversity in Nigeria, we established the Non-Communicable
Diseases Genetic Heritage Study (NCD-GHS) consortium to help produce a comprehensive …

[HTML][HTML] From GWAS to gene: transcriptome-wide association studies and other methods to functionally understand GWAS discoveries

B Li, MD Ritchie - Frontiers in genetics, 2021 - frontiersin.org
Since their inception, genome-wide association studies (GWAS) have identified more than a
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …