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Computational principles and challenges in single-cell data integration
The development of single-cell multimodal assays provides a powerful tool for investigating
multiple dimensions of cellular heterogeneity, enabling new insights into development …
multiple dimensions of cellular heterogeneity, enabling new insights into development …
Tutorial: a guide to performing polygenic risk score analyses
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 …
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
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
Gene–environment correlations across geographic regions affect genome-wide association studies
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 …
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
Genome-wide association analysis of cohorts with thousands of phenotypes is
computationally expensive, particularly when accounting for sample relatedness or …
computationally expensive, particularly when accounting for sample relatedness or …
Towards clinical utility of polygenic risk scores
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 …
management. Risk prediction typically includes risk factors such as age, sex, family history of …
Germline variants associated with toxicity to immune checkpoint blockade
Immune checkpoint inhibitors (ICIs) have yielded remarkable responses but often lead to
immune-related adverse events (irAEs). Although germline causes for irAEs have been …
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
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 …
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
Objectives Genome‐wide association studies (GWAS) have become increasingly popular to
identify associations between single nucleotide polymorphisms (SNPs) and phenotypic …
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 …
combining raw inputs into layers of intermediate features. These algorithms have recently …