Opportunities and challenges for transcriptome-wide association studies
Transcriptome-wide association studies (TWAS) integrate genome-wide association studies
(GWAS) and gene expression datasets to identify gene–trait associations. In this …
(GWAS) and gene expression datasets to identify gene–trait associations. In this …
Genomics of disease risk in globally diverse populations
Risk of disease is multifactorial and can be shaped by socio-economic, demographic,
cultural, environmental and genetic factors. Our understanding of the genetic determinants …
cultural, environmental and genetic factors. Our understanding of the genetic determinants …
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 …
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …
Genetic analyses support the contribution of mRNA N6-methyladenosine (m6A) modification to human disease heritability
Abstract N 6-methyladenosine (m6A) plays important roles in regulating messenger RNA
processing. Despite rapid progress in this field, little is known about the genetic …
processing. Despite rapid progress in this field, little is known about the genetic …
The accelerated aging phenotype: the role of race and social determinants of health on aging
The pursuit to discover the fundamental biology and mechanisms of aging within the context
of the physical and social environment is critical to designing interventions to prevent and …
of the physical and social environment is critical to designing interventions to prevent and …
Population-specific causal disease effect sizes in functionally important regions impacted by selection
Many diseases exhibit population-specific causal effect sizes with trans-ethnic genetic
correlations significantly less than 1, limiting trans-ethnic polygenic risk prediction. We …
correlations significantly less than 1, limiting trans-ethnic polygenic risk prediction. We …
Sources of gene expression variation in a globally diverse human cohort
Genetic variation that influences gene expression and splicing is a key source of phenotypic
diversity,,,–. Although invaluable, studies investigating these links in humans have been …
diversity,,,–. Although invaluable, studies investigating these links in humans have been …
Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries
Background 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 …
wide association studies (GWAS) into clinical practice. To date, most GWAS have been …
Africa-specific human genetic variation near CHD1L associates with HIV-1 load
PJ McLaren, I Porreca, G Iaconis, HP Mok… - Nature, 2023 - nature.com
HIV-1 remains a global health crisis, highlighting the need to identify new targets for
therapies. Here, given the disproportionate HIV-1 burden and marked human genome …
therapies. Here, given the disproportionate HIV-1 burden and marked human genome …
Local dynamic spontaneous brain activity changes in first-episode, treatment-naive patients with major depressive disorder and their associated gene expression …
K Xue, S Liang, B Yang, D Zhu, Y Xie, W Qin… - Psychological …, 2022 - cambridge.org
BackgroundMajor depressive disorder (MDD) is a common debilitating disorder
characterized by impaired spontaneous brain activity, yet little is known about its alterations …
characterized by impaired spontaneous brain activity, yet little is known about its alterations …