Genetic load: genomic estimates and applications in non-model animals
Genetic variation, which is generated by mutation, recombination and gene flow, can reduce
the mean fitness of a population, both now and in the future. This 'genetic load'has been …
the mean fitness of a population, both now and in the future. This 'genetic load'has been …
[HTML][HTML] Artificial intelligence in hematological diagnostics: Game changer or gadget?
W Walter, C Pohlkamp, M Meggendorfer, N Nadarajah… - Blood Reviews, 2023 - Elsevier
The future of clinical diagnosis and treatment of hematologic diseases will inevitably involve
the integration of artificial intelligence (AI)-based systems into routine practice to support the …
the integration of artificial intelligence (AI)-based systems into routine practice to support the …
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 …
Ensembl 2023
FJ Martin, MR Amode, A Aneja… - Nucleic acids …, 2023 - academic.oup.com
Abstract Ensembl (https://www. ensembl. org) has produced high-quality genomic resources
for vertebrates and model organisms for more than twenty years. During that time, our …
for vertebrates and model organisms for more than twenty years. During that time, our …
Enzyme function prediction using contrastive learning
Enzyme function annotation is a fundamental challenge, and numerous computational tools
have been developed. However, most of these tools cannot accurately predict functional …
have been developed. However, most of these tools cannot accurately predict functional …
Efficient evolution of human antibodies from general protein language models
Natural evolution must explore a vast landscape of possible sequences for desirable yet
rare mutations, suggesting that learning from natural evolutionary strategies could guide …
rare mutations, suggesting that learning from natural evolutionary strategies could guide …
Progen2: exploring the boundaries of protein language models
Attention-based models trained on protein sequences have demonstrated incredible
success at classification and generation tasks relevant for artificial-intelligence-driven …
success at classification and generation tasks relevant for artificial-intelligence-driven …
Genome-wide prediction of disease variant effects with a deep protein language model
Predicting the effects of coding variants is a major challenge. While recent deep-learning
models have improved variant effect prediction accuracy, they cannot analyze all coding …
models have improved variant effect prediction accuracy, they cannot analyze all coding …
Analysis of 6.4 million SARS-CoV-2 genomes identifies mutations associated with fitness
Repeated emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
variants with increased fitness underscores the value of rapid detection and characterization …
variants with increased fitness underscores the value of rapid detection and characterization …
The landscape of tolerated genetic variation in humans and primates
H Gao, T Hamp, J Ede, JG Schraiber, J McRae… - Science, 2023 - science.org
Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
individuals, but our understanding of their clinical relevance remains largely incomplete. To …