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Category:All HeadlinesWorld & GeopoliticsMarkets & EconomyTech & AIPoliticsSearch results for: "Prediction of pathogenic" (30 stories)

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MetaXVP: an interpretable machine learning framework for deep insight into variant pathogenicity and VUS classification
Lead StoryNaturegeneral
Apr 27

MetaXVP: an interpretable machine learning framework for deep insight into variant pathogenicity and VUS classification

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFB3WWprb19SZGNmNktlQTl1YmhwMlBXeU0tWFMzd0E3eVp1Q3hWU29WYU5Oa1p6eDVFRFpGWjNpOHhWOHRlQWxLeHlmX0E4aXFwVGhHNFljeFZUaHJjaDlv?oc=5" target="_blank">MetaXVP: an interpretable machine learning framework for deep insight into variant pathogenicity and VUS classification</a>  <font color="#6f6f6f">Nature</font>

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Search Results for "Prediction of pathogenic"

Updated every 3 minutes via FreeNewsApi, GNews, Currents API & Google News

29 stories displayed
PATHOS: Predicting Variant Pathogenicity by Combining Protein Language Models and Biological Features
medRxivgeneral

PATHOS: Predicting Variant Pathogenicity by Combining Protein Language Models and Biological Features

<a href="https://news.google.com/rss/articles/CBMifEFVX3lxTFB6RUVTYjk1azZUQ1pmQ196MDlwbVU1X3l5TFVSTFBWd3k3OXJ4S1RnN2FWTkFaYTFqSzNHT2pKOVM1X1lNbFJnTEgzcU13OXFmQmNhcXk5RjRQUEtadVE4Zi1OdGFCUGptb1I5Z2MwTm5sdVk0eGlMZV9BRUg?oc=5" target="_blank">PATHOS: Predicting Variant Pathogenicity by Combining Protein Language Models and Biological Features</a>  <font color="#6f6f6f">medRxiv</font>

Semantic embedding of variant effect annotations enables rapid and accurate pathogenicity prediction with VUS.Life
Naturegeneral

Semantic embedding of variant effect annotations enables rapid and accurate pathogenicity prediction with VUS.Life

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9vT2FqcnFSZDhicEtHdko4M2NNcnlOVjRzMTcxcm5EdmdDaUsxRDBfeEhBeDNkRDQ2QzlVcFFiYzFURjJ4ejBrakk2UGZCUFE3RFBTMndqcVpuck1Td0Fn?oc=5" target="_blank">Semantic embedding of variant effect annotations enables rapid and accurate pathogenicity prediction with VUS.Life</a>  <font color="#6f6f6f">Nature</font>

Accurate proteome-wide missense variant effect prediction with AlphaMissense
Science | AAASgeneral

Accurate proteome-wide missense variant effect prediction with AlphaMissense

<a href="https://news.google.com/rss/articles/CBMiYEFVX3lxTE05aWF3S1J2b1lsSUhnb2NKUXZhYzY4M0dSZjVkdnFtb2xKb0tZWUJjMlV5MHE2QmlJZ2xzaFN1SU9GeUdoQlVLTkFzajJSVi1sUHZneDN5TTZUSUFIckdaUg?oc=5" target="_blank">Accurate proteome-wide missense variant effect prediction with AlphaMissense</a>  <font color="#6f6f6f">Science | AAAS</font>

Causal Prediction of TP53 Variant Pathogenicity Using a Perturbation‐Informed Protein Language Model
Wiley & Sonsgeneral

Causal Prediction of TP53 Variant Pathogenicity Using a Perturbation‐Informed Protein Language Model

<a href="https://news.google.com/rss/articles/CBMidkFVX3lxTFBCb09qQjdlWFFDSGgtS1o3enBQMHFsZTFlQVJ6UEJUeXp6ZVpoQTR6RF9nS0RmdkZ2a2ZlVGtBU294eVppcmppWHNwamVITC1wNGlWdGhYOXBnb0xNbnMyLU41b2xaOEFkUURaMWFTSm1TVFpoV2c?oc=5" target="_blank">Causal Prediction of TP53 Variant Pathogenicity Using a Perturbation‐Informed Protein Language Model</a>  <font color="#6f6f6f">Wiley & Sons</font>

Insights on variant analysis in silico tools for pathogenicity prediction
Frontiersgeneral

Insights on variant analysis in silico tools for pathogenicity prediction

<a href="https://news.google.com/rss/articles/CBMijwFBVV95cUxNNmh4MFFEUlVlVUVsajVRLTNxSXpZWS1LbVdxYmc3LXhpLXdVWTIzWkhwaVA3NXZKei02SGxPbkZ2UzI4aUNGSzFveWtpLUVuSm5NUXd6aV9FLWtoVjQ1SkRWOGtXQUdqUWZadG81YTVldHhWOGFLeF9LNFNTUkJVSVowdXFXem9TNG9SV0d1aw?oc=5" target="_blank">Insights on variant analysis in silico tools for pathogenicity prediction</a>  <font color="#6f6f6f">Frontiers</font>

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome
Naturegeneral

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBRaDg3MzZkSzM0MWZiZVV1M3ZtZjFyelQ1Mlh4QnAzSHJFRmozNXhKTFNBWDB3QVh5RjlDNW5sdHNQZTNmNHlvekdzNC1JWFdxY2E3WTFvLWZTem5RbVFF?oc=5" target="_blank">Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome</a>  <font color="#6f6f6f">Nature</font>

Clinical prediction of pathogenic variants in non-coding regions of the human genome
medRxivgeneral

Clinical prediction of pathogenic variants in non-coding regions of the human genome

<a href="https://news.google.com/rss/articles/CBMickFVX3lxTE9uQ1hQeXkyZWZxZ2lLMUJ3WFcwYkc3Y2kxd1BkWmlzaVlObU5aQWlCZDR4X21yWXlRVG5lMU9wY0c1ckg4MjFiU0JHTy1MbWltZnRYd3VMYW9DTjkwZEFTelBTUVlwX3drSkQzb0RLdnROdw?oc=5" target="_blank">Clinical prediction of pathogenic variants in non-coding regions of the human genome</a>  <font color="#6f6f6f">medRxiv</font>

Predicting pathogenic protein variants
Science | AAASgeneral

Predicting pathogenic protein variants

<a href="https://news.google.com/rss/articles/CBMiYEFVX3lxTE9YTEMxSG9NQThma0tLdm1WbVQ4NHdyd181X3lsZUlaNmF6REF3UHJZTndhXzNRUnduZm43MVhtZE5QNjZzM0xJQlFzc3gybElWRUhyLXNqaHR0b3ExcWl6ag?oc=5" target="_blank">Predicting pathogenic protein variants</a>  <font color="#6f6f6f">Science | AAAS</font>

Expanding the utility of variant effect predictions with phenotype-specific models
Naturegeneral

Expanding the utility of variant effect predictions with phenotype-specific models

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBjblVna0hyaTJ0Q3piN1FQX0ljd3hscTdPVGEwUXN2RDhwajZCVWE0VmVCT0p3c1hBWmhpNVVoaVQ4T0l0YVczYlhFM3ExcXBPcDRTMXZ6SS1uZXg2cDdr?oc=5" target="_blank">Expanding the utility of variant effect predictions with phenotype-specific models</a>  <font color="#6f6f6f">Nature</font>

Prediction of pathogenic mutations in human transmembrane proteins and their associated diseases via utilizing pre-trained Bio-LLMs | Communications Biology
Naturetech

Prediction of pathogenic mutations in human transmembrane proteins and their associated diseases via utilizing pre-trained Bio-LLMs | Communications Biology

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9QbG1Zbmtqc20td3A0MmduZGhBbjNJc296TEFwR0FMM1JrSnV5SGUxLUVBS016SW8zSzNVRFFFbWJ3X3lxbUxJR2N1RmFQUkFvaEVTbjgwU3kyRl9uZ3ZN?oc=5" target="_blank">Prediction of pathogenic mutations in human transmembrane proteins and their associated diseases via utilizing pre-trained Bio-LLMs | Communications Biology</a>  <font color="#6f6f6f">Nature</font>

Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules
Naturegeneral

Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1zUDUyV0poZERBRkpQdy11WnVvRXluTloxYmJJeC05MXVoMFUtUDVraFUtdjZhUnZBRXVIZzR5clV3UWhrQ2UyMGw1LWtZSDNtZ19GMnhHdW1mZlVrR3dF?oc=5" target="_blank">Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules</a>  <font color="#6f6f6f">Nature</font>

Enhancing missense variant pathogenicity prediction with protein language models using VariPred | Scientific Reports
Naturegeneral

Enhancing missense variant pathogenicity prediction with protein language models using VariPred | Scientific Reports

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE12eFFMM2dNTU9DRzBPNkFpMi1KM2MyV21UdUFteVpQZnhpTG5NOVpvVC1jalN5cFNncEdQM0w1MnByRTZaN0dLd0dESi1jZkNZdDR5Tm9Jc0gwdEtsdFhn?oc=5" target="_blank">Enhancing missense variant pathogenicity prediction with protein language models using VariPred | Scientific Reports</a>  <font color="#6f6f6f">Nature</font>

Ecology and environment predict spatially stratified risk of H5 highly pathogenic avian influenza clade 2.3.4.4b in wild birds across Europe
Natureworld

Ecology and environment predict spatially stratified risk of H5 highly pathogenic avian influenza clade 2.3.4.4b in wild birds across Europe

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE43RzloTjJmaUtMaWs2N0tkQnBka0J3Wm9pdkd3NjdpclpwQjJRbHBpUlhTTTRJT2E0MFNIVVltSmtTOUhJY01vbXh1LUY2Z1ZLa29EZlFIazF0c19uRnpR?oc=5" target="_blank">Ecology and environment predict spatially stratified risk of H5 highly pathogenic avian influenza clade 2.3.4.4b in wild birds across Europe</a>  <font color="#6f6f6f">Nature</font>

Evaluating variant pathogenicity prediction tools to establish African inclusive guidelines for germline genetic testing
Naturegeneral

Evaluating variant pathogenicity prediction tools to establish African inclusive guidelines for germline genetic testing

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE8tMDNqcWdKNFAyTUpFMUE0N0poUC1lQng5YWIwTEJlVlB2SjBXQVpad3lCXy1XVjN0YkU3cmQwVk53MnBvZTU1QlNzZGJxQnhfb3JVY2l0aGpxWXQwSVpn?oc=5" target="_blank">Evaluating variant pathogenicity prediction tools to establish African inclusive guidelines for germline genetic testing</a>  <font color="#6f6f6f">Nature</font>

Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants
Naturegeneral

Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1hamJuc1RPMjJ5ZkFFMmswaWJ5TTBnSGVockRfbXpTcU1oa1ZneHJVUm9FRW5FUE42bWs4NUVpY294M0xqcnZlOXRjQUl3NnZvbXNwclIxaG5iV3l4Y19v?oc=5" target="_blank">Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants</a>  <font color="#6f6f6f">Nature</font>

PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context
Naturegeneral

PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBKbmpWU0dBaDNRU2NzajcwNzFXN1hOY3hhMjdUS0J5a2I1b0dIY0l4NzJETndaX0JmR3cyTXVQaG56QVFjbDZPbkt6MHN4a0RQODJreEJBa3JQZHF5THV3?oc=5" target="_blank">PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context</a>  <font color="#6f6f6f">Nature</font>

Meta-EA : a gene-specific combination of available computational tools for predicting missense variant effects
Naturetech

Meta-EA : a gene-specific combination of available computational tools for predicting missense variant effects

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1XUk1wd0E2bzNjeC1jekpaT3pVcllOQmNSbEhTMU5ZQUktd18yUTRhNk1IOGZUNjZyN25wa21BczFMYWJFbC1BTldxaEtmVnZoSGM4dHZ0QWstYTRpN1lR?oc=5" target="_blank">Meta-EA : a gene-specific combination of available computational tools for predicting missense variant effects</a>  <font color="#6f6f6f">Nature</font>

Predicting variant pathogenicity with AlphaMissense
Naturegeneral

Predicting variant pathogenicity with AlphaMissense

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE81UnpSVWh3c2ZPckphWWZpWHVSaHVEVHZkOTBodk9LNmtKNnNpLTFpM3U3ZXFMcXk2Z19SeTZEUW92ZVJVRnkwRE5XSURteFRYbWJ1TmJrak40SmZKdGlv?oc=5" target="_blank">Predicting variant pathogenicity with AlphaMissense</a>  <font color="#6f6f6f">Nature</font>

VarMeter: a prediction method for the impact of glycogene variants
Naturegeneral

VarMeter: a prediction method for the impact of glycogene variants

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5RSkFHSW1TdTdpdFJzVW4tS1FBZ1hHT3NSMkVUdmN1UWg4NHZMdVB6UWpMZmVHcU93NWJkdjJiZlpKQnFXcXFaSUE2MW9LN21vek9iX25aT1lBWjRCLWlj?oc=5" target="_blank">VarMeter: a prediction method for the impact of glycogene variants</a>  <font color="#6f6f6f">Nature</font>

Performance of AlphaMissense and Other In Silico Predictors to Determine Pathogenicity of Missense Variants in Sarcomeric Genes
American Heart Association Journalsgeneral

Performance of AlphaMissense and Other In Silico Predictors to Determine Pathogenicity of Missense Variants in Sarcomeric Genes

<a href="https://news.google.com/rss/articles/CBMib0FVX3lxTFBwOGwtRjNKUTh6MkRtX1VpaTE4OXN0RXB6Qk9zTGtWb3E0WWFId0l6eThjYk92QVlRQ3U4U1VKVmdvbGhoV0pEU0RUMmZ6Tkl5a0Q4a1VyUTgzbk1HbTZRTEgwa2dEQlVvVjc3SDJuVQ?oc=5" target="_blank">Performance of AlphaMissense and Other In Silico Predictors to Determine Pathogenicity of Missense Variants in Sarcomeric Genes</a>  <font color="#6f6f6f">American Heart Association Journals</font>

Genome-wide prediction of disease variant effects with a deep protein language model
Naturegeneral

Genome-wide prediction of disease variant effects with a deep protein language model

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1fUFlNOHc5aWh5UHJMVVJVXzhOVUhOQnEzMDV4YzNrS0xHdURfQ2gwQXpGVzBnZlNaSkpQY3k3RVk5OXV4YmNpNXVBaHplbnpOZWZjSk1GbHc1c2pmNm1r?oc=5" target="_blank">Genome-wide prediction of disease variant effects with a deep protein language model</a>  <font color="#6f6f6f">Nature</font>

APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants
Naturegeneral

APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE12Y1VVTGh2TmE3clN5SmV6Z1VMcTdGMWhiRDRHbHZqV2dlX3MyNWtGaEc0SGlrcS01a29qMzRuMnBXbmk3aWRUUXBJN1FzTDVkTUt3RWlEMjExbW9wcVdn?oc=5" target="_blank">APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants</a>  <font color="#6f6f6f">Nature</font>

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction
Frontiersgeneral

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction

<a href="https://news.google.com/rss/articles/CBMioAFBVV95cUxQVlh6RVdMbVlhYXhERU5QZkljME40WF9uMEluRUNSeVg4dXVTUDR0ZHRmYmRfdEQ3US1GR1RhSVJpYjZiblBtZVFSZTZDOE9GUEZ4c3pxUXQ5X0FJM0paZjBhVnUtb1B2Y0lJdGdGM3llSEpBSmcxNU1QenJ6a19xYktNMjZMZDA3cWZIUkpxOWUyTkhHQUhCX3RXb1VKQi1k?oc=5" target="_blank">A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction</a>  <font color="#6f6f6f">Frontiers</font>

Functional Effect Predictions For Ion Channel Missense Variants Using a Protein Language Model
medRxivworld

Functional Effect Predictions For Ion Channel Missense Variants Using a Protein Language Model

<a href="https://news.google.com/rss/articles/CBMie0FVX3lxTE1ieHdEeWpIMnFxejFKX1BORmtkZnAwYXg5dThuR2ZwYmJxX0JGamxpb1NKV2M1dklRSGgwQThYaEdMR3E4SVR3dzZwQjNHeW0xTHo5ZXNLUlMzTDdaU1RQSkNxcm91NkVVWHIxdjFCdk9DN0pxbHFwTWllSQ?oc=5" target="_blank">Functional Effect Predictions For Ion Channel Missense Variants Using a Protein Language Model</a>  <font color="#6f6f6f">medRxiv</font>

AI cancer driver mutation predictions are valid in real-world data
Naturetech

AI cancer driver mutation predictions are valid in real-world data

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBVdkZTcnpsZHdUVnhJdEZxbGlzQnUzaGVzLVVrUkw4eUhiS1hJUHpXTHk3ajlLbHdiZkMydmJtN0haQUlueERHNUFFLWdITmYyS2JlSWFHV2xieUFxV3dN?oc=5" target="_blank">AI cancer driver mutation predictions are valid in real-world data</a>  <font color="#6f6f6f">Nature</font>

Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes
Natureworld

Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFB1NWZtYnpNLUE1d0Myc1laY25tRjdpcXpzZjFwR3hFQmR3QklpdWE4RjdXTVY4cUl3aGFiWXVfYTU2QjEzR2J6WUZlWi1NckhidHNDdldTQXpBS2lLdTY0?oc=5" target="_blank">Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes</a>  <font color="#6f6f6f">Nature</font>

MVP predicts the pathogenicity of missense variants by deep learning
Naturegeneral

MVP predicts the pathogenicity of missense variants by deep learning

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE16bVpvbGhyZkdqeHpKcXhWaVkyUzUzUVR1ZHhXdkRtSzRkdlRqWDdXUElyUFdFOFdaR2RmQXIycjZuMnBVUEp2bWR5dm9ZSFFJejUtWUpKWnplUmQ2bDh3?oc=5" target="_blank">MVP predicts the pathogenicity of missense variants by deep learning</a>  <font color="#6f6f6f">Nature</font>

Dynamicasome—a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations | Communications Biology
Naturetech

Dynamicasome—a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations | Communications Biology

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9xSDNkb2lndGJSeGlzUE4tVXFuUGhUNVRQZll2SXh2alpsSWlkaFp1Nkc4aUExc3dobmlmLVgxMlpKZVp3THUzbkhXSFVUVzVmSnA4a1VVUVhrd1h3UzBB?oc=5" target="_blank">Dynamicasome—a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations | Communications Biology</a>  <font color="#6f6f6f">Nature</font>

Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants
Naturegeneral

Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5Vamx6ejFvWTNqbm5MalZrQ09lU210NjRQVlgwRDFwNDBLRjczVDZRZnFkcGhFUGh1MGpCMGtiZDl0SVAyaHJJVVlCVF9ERVBwVF9zZXd1dHAtVG5NVTJN?oc=5" target="_blank">Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants</a>  <font color="#6f6f6f">Nature</font>

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