Pharmacogenomics: current status and future perspectives
M Pirmohamed - Nature Reviews Genetics, 2023 - nature.com
Inter-individual variability in drug response, be it efficacy or safety, is common and likely to
become an increasing problem globally given the growing elderly population requiring …
become an increasing problem globally given the growing elderly population requiring …
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Origins of modern human ancestry
New finds in the palaeoanthropological and genomic records have changed our view of the
origins of modern human ancestry. Here we review our current understanding of how the …
origins of modern human ancestry. Here we review our current understanding of how the …
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
The complete and fully-phased diploid genome of a male Han Chinese
Since the release of the complete human genome, the priority of human genomic study has
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …
The road ahead in genetics and genomics
In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading
researchers to reflect on the key challenges and opportunities faced by the field of genetics …
researchers to reflect on the key challenges and opportunities faced by the field of genetics …
Human ACE2 receptor polymorphisms and altered susceptibility to SARS-CoV-2
COVID-19 is a respiratory illness caused by a novel coronavirus called SARS-CoV-2. The
viral spike (S) protein engages the human angiotensin-converting enzyme 2 (ACE2) …
viral spike (S) protein engages the human angiotensin-converting enzyme 2 (ACE2) …
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
CY Wei, JH Yang, EC Yeh, MF Tsai, HJ Kao… - NPJ genomic …, 2021 - nature.com
Personalized medical care focuses on prediction of disease risk and response to
medications. To build the risk models, access to both large-scale genomic resources and …
medications. To build the risk models, access to both large-scale genomic resources and …
Genomic insights into population history and biological adaptation in Oceania
The Pacific region is of major importance for addressing questions regarding human
dispersals, interactions with archaic hominins and natural selection processes. However, the …
dispersals, interactions with archaic hominins and natural selection processes. However, the …
Quantifying and understanding the higher risk of atherosclerotic cardiovascular disease among South Asian individuals: results from the UK Biobank prospective …
Background: Individuals of South Asian ancestry represent 23% of the global population,
corresponding to 1.8 billion people, and have substantially higher risk of atherosclerotic …
corresponding to 1.8 billion people, and have substantially higher risk of atherosclerotic …