Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease
To elucidate the genetics of coronary artery disease (CAD) in the Japanese population, we
conducted a large-scale genome-wide association study of 168,228 individuals of Japanese …
conducted a large-scale genome-wide association study of 168,228 individuals of Japanese …
Revolutionizing cancer research: the impact of artificial intelligence in digital biobanking
C Frascarelli, G Bonizzi, CR Musico, E Mane… - Journal of Personalized …, 2023 - mdpi.com
Background. Biobanks are vital research infrastructures aiming to collect, process, store, and
distribute biological specimens along with associated data in an organized and governed …
distribute biological specimens along with associated data in an organized and governed …
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
Cardiometabolic diseases are the leading cause of death worldwide. Despite a known
genetic component, our understanding of these diseases remains incomplete. Here, we …
genetic component, our understanding of these diseases remains incomplete. Here, we …
Recent advances and challenges of rare variant association analysis in the biobank sequencing era
Causal variants for rare genetic diseases are often rare in the general population. Rare
variants may also contribute to common complex traits and can have much larger per-allele …
variants may also contribute to common complex traits and can have much larger per-allele …
Rare coding variant analysis for human diseases across biobanks and ancestries
Large-scale sequencing has enabled unparalleled opportunities to investigate the role of
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts
With very large sample sizes, biobanks provide an exciting opportunity to identify genetic
components of complex traits. To analyze rare variants, region-based multiple-variant …
components of complex traits. To analyze rare variants, region-based multiple-variant …
Identity-by-descent detection across 487,409 British samples reveals fine scale population structure and ultra-rare variant associations
Abstract Detection of Identical-By-Descent (IBD) segments provides a fundamental measure
of genetic relatedness and plays a key role in a wide range of analyses. We develop …
of genetic relatedness and plays a key role in a wide range of analyses. We develop …
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic'condition
Dravet syndrome is an archetypal rare severe epilepsy, considered 'monogenic', typically
caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its …
caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its …
[HTML][HTML] A fast and accurate method for genome-wide time-to-event data analysis and its application to UK Biobank
With increasing biobanking efforts connecting electronic health records and national
registries to germline genetics, the time-to-event data analysis has attracted increasing …
registries to germline genetics, the time-to-event data analysis has attracted increasing …
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations
The clinical impact of rare loss-of-function variants has yet to be determined for most genes.
Integration of DNA sequencing data with electronic health records (EHRs) could enhance …
Integration of DNA sequencing data with electronic health records (EHRs) could enhance …