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 …

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
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 …

Origins of modern human ancestry

A Bergström, C Stringer, M Hajdinjak, EML Scerri… - Nature, 2021 - nature.com
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 …

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

AC Fahed, M Wang, JR Homburger, AP Patel… - Nature …, 2020 - nature.com
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 …

The road ahead in genetics and genomics

AL McGuire, S Gabriel, SA Tishkoff, A Wonkam… - Nature Reviews …, 2020 - nature.com
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 …

The complete and fully-phased diploid genome of a male Han Chinese

C Yang, Y Zhou, Y Song, D Wu, Y Zeng, L Nie, P Liu… - Cell Research, 2023 - nature.com
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 …

Human ACE2 receptor polymorphisms and altered susceptibility to SARS-CoV-2

K Suryamohan, D Diwanji, EW Stawiski… - Communications …, 2021 - nature.com
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) …

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 …

Genomic insights into population history and biological adaptation in Oceania

J Choin, J Mendoza-Revilla, LR Arauna… - Nature, 2021 - nature.com
The Pacific region is of major importance for addressing questions regarding human
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 …

AP Patel, M Wang, U Kartoun, K Ng, AV Khera - Circulation, 2021 - Am Heart Assoc
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 …