SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
JM de Sainte Agathe, M Filser, B Isidor, T Besnard… - Human Genomics, 2023 - Springer
SpliceAI is an open-source deep learning splicing prediction algorithm that has
demonstrated in the past few years its high ability to predict splicing defects caused by DNA …
demonstrated in the past few years its high ability to predict splicing defects caused by DNA …
Deciphering the impact of genomic variation on function
Code of Conduct Committee (alphabetical by last name … - Nature, 2024 - nature.com
Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …
functions to phenotypes in health and disease. Studying the differences in DNA sequence …
Accurate proteome-wide missense variant effect prediction with AlphaMissense
The vast majority of missense variants observed in the human genome are of unknown
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …
The next-generation Open Targets Platform: reimagined, redesigned, rebuilt
Abstract The Open Targets Platform (https://platform. opentargets. org/) is an open source
resource to systematically assist drug target identification and prioritisation using publicly …
resource to systematically assist drug target identification and prioritisation using publicly …
Polygenic architecture of rare coding variation across 394,783 exomes
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …
Genome-wide association studies have identified thousands of common-variant …
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank
M Garg, M Karpinski, D Matelska, L Middleton… - Nature Genetics, 2024 - nature.com
The emergence of biobank-level datasets offers new opportunities to discover novel
biomarkers and develop predictive algorithms for human disease. Here, we present an …
biomarkers and develop predictive algorithms for human disease. Here, we present an …
The molecular cytoarchitecture of the adult mouse brain
The function of the mammalian brain relies upon the specification and spatial positioning of
diversely specialized cell types. Yet, the molecular identities of the cell types and their …
diversely specialized cell types. Yet, the molecular identities of the cell types and their …
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 …
Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes
The release of 150,119 UK Biobank sequences represents an unprecedented opportunity
as a reference panel to impute low-coverage whole-genome sequencing data with high …
as a reference panel to impute low-coverage whole-genome sequencing data with high …
Refining the impact of genetic evidence on clinical success
The cost of drug discovery and development is driven primarily by failure, with only about
10% of clinical programmes eventually receiving approval,–. We previously estimated that …
10% of clinical programmes eventually receiving approval,–. We previously estimated that …