[HTML][HTML] How machine learning will transform biomedicine
This Perspective explores the application of machine learning toward improved diagnosis
and treatment. We outline a vision for how machine learning can transform three broad …
and treatment. We outline a vision for how machine learning can transform three broad …
[HTML][HTML] Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
[HTML][HTML] PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
ND Olson, J Wagner, J McDaniel, SH Stephens… - Cell genomics, 2022 - cell.com
Summary The precisionFDA Truth Challenge V2 aimed to assess the state of the art of
variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge …
variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge …
[HTML][HTML] Limitations and challenges in protein stability prediction upon genome variations: towards future applications in precision medicine
Protein stability predictions are becoming essential in medicine to develop novel
immunotherapeutic agents and for drug discovery. Despite the large number of …
immunotherapeutic agents and for drug discovery. Despite the large number of …
Protein storytelling through physics
BACKGROUND Understanding biology, particularly at the level of actionable drug
discovery, is often a matter of developing accurate stories about how proteins work. This …
discovery, is often a matter of developing accurate stories about how proteins work. This …
Interpreting protein variant effects with computational predictors and deep mutational scanning
BJ Livesey, JA Marsh - Disease Models & Mechanisms, 2022 - journals.biologists.com
Computational predictors of genetic variant effect have advanced rapidly in recent years.
These programs provide clinical and research laboratories with a rapid and scalable method …
These programs provide clinical and research laboratories with a rapid and scalable method …
[HTML][HTML] A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
Genomic variant interpretation is a critical step of the diagnostic procedure, often supported
by the application of tools that may predict the damaging impact of each variant or provide a …
by the application of tools that may predict the damaging impact of each variant or provide a …
[HTML][HTML] Open problems in human trait genetics
Genetic studies of human traits have revolutionized our understanding of the variation
between individuals, and yet, the genetics of most traits is still poorly understood. In this …
between individuals, and yet, the genetics of most traits is still poorly understood. In this …
Rhapsody: predicting the pathogenicity of human missense variants
Motivation The biological effects of human missense variants have been studied
experimentally for decades but predicting their effects in clinical molecular diagnostics …
experimentally for decades but predicting their effects in clinical molecular diagnostics …
[HTML][HTML] Analysis and interpretation of the impact of missense variants in cancer
Large scale genome sequencing allowed the identification of a massive number of genetic
variations, whose impact on human health is still unknown. In this review we analyze, by an …
variations, whose impact on human health is still unknown. In this review we analyze, by an …