Computational principles and challenges in single-cell data integration

R Argelaguet, ASE Cuomo, O Stegle… - Nature biotechnology, 2021 - nature.com
The development of single-cell multimodal assays provides a powerful tool for investigating
multiple dimensions of cellular heterogeneity, enabling new insights into development …

Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …

Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction

R Karlsson Linnér, TT Mallard, PB Barr… - Nature …, 2021 - nature.com
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …

Gene–environment correlations across geographic regions affect genome-wide association studies

A Abdellaoui, CV Dolan, KJH Verweij, MG Nivard - Nature genetics, 2022 - nature.com
Gene–environment correlations affect associations between genetic variants and complex
traits in genome-wide association studies (GWASs). Here we showed in up to 43,516 British …

Computationally efficient whole-genome regression for quantitative and binary traits

J Mbatchou, L Barnard, J Backman, A Marcketta… - Nature …, 2021 - nature.com
Genome-wide association analysis of cohorts with thousands of phenotypes is
computationally expensive, particularly when accounting for sample relatedness or …

Towards clinical utility of polygenic risk scores

SA Lambert, G Abraham, M Inouye - Human molecular genetics, 2019 - academic.oup.com
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …

Germline variants associated with toxicity to immune checkpoint blockade

S Groha, SA Alaiwi, W Xu, V Naranbhai, AH Nassar… - Nature medicine, 2022 - nature.com
Immune checkpoint inhibitors (ICIs) have yielded remarkable responses but often lead to
immune-related adverse events (irAEs). Although germline causes for irAEs have been …

Brain aging patterns in a large and diverse cohort of 49,482 individuals

Z Yang, J Wen, G Erus, ST Govindarajan, R Melhem… - Nature medicine, 2024 - nature.com
Brain aging process is influenced by various lifestyle, environmental and genetic factors, as
well as by age-related and often coexisting pathologies. Magnetic resonance imaging and …

A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis

AT Marees, H De Kluiver, S Stringer… - … journal of methods …, 2018 - Wiley Online Library
Objectives Genome‐wide association studies (GWAS) have become increasingly popular to
identify associations between single nucleotide polymorphisms (SNPs) and phenotypic …

Opportunities and obstacles for deep learning in biology and medicine

T Ching, DS Himmelstein… - Journal of the …, 2018 - royalsocietypublishing.org
Deep learning describes a class of machine learning algorithms that are capable of
combining raw inputs into layers of intermediate features. These algorithms have recently …