#noncodingvariants 搜索结果
Online now! Review discussing the basics of noncoding variant-mediated pathogenesis, the methodologies utilized, and how #iPSC -based heart models can be leveraged to dissect the mechanisms of #noncodingvariants ow.ly/wqcH50VlLGC @UBCcps @BCCHresearch @SBME_UBC @ISSCR
Classification of non-coding variants with high pathogenic impact. #WGS #NonCodingVariants #FunctionalPrediction #DiseaseImpact #MachineLearning #Bioinformatics journals.plos.org/plosgenetics/a… @PLOSGenetics
Annotating and prioritizing human non-coding variants with RegulomeDB v.2. #NonCodingVariants #VariantsAnnotation #VariantsPrioritization @NatureGenet nature.com/articles/s4158…
Recommendations for clinical interpretation of variants found in non-coding regions of the genome. #NonCodingVariants #Clinicalinterpretation @j_ellingford @nickywhiffin @GenomeMedicine genomemedicine.biomedcentral.com/articles/10.11…
New Topic "#NonCodingVariants: From #Interpretation to #PersonalizedMedicine" led by Drs Elvezia Maria Paraboschi @HumanitasMilano, Elisabetta Morini and Harrison Brand @Harvard and @hongheeW is open for submissions. Submit here: fro.ntiers.in/3oa7
Cell type–specific interpretation of noncoding variants using deep learning–based methods. #NonCodingVariants #DeepLearning #CellTypeVariants @GigaScience academic.oup.com/gigascience/ar…
academic.oup.com
Cell type–specific interpretation of noncoding variants using deep learning–based methods
Abstract. Interpretation of noncoding genomic variants is one of the most important challenges in human genetics. Machine learning methods have emerged rec
Non-coding variants impact cis-regulatory coordination in a cell type-specific manner. #NonCodingVariants #CisRegulatoryElements @GenomeBiology genomebiology.biomedcentral.com/articles/10.11…
link.springer.com
Non-coding variants impact cis-regulatory coordination in a cell type-specific manner
Genome Biology - Interactions among cis-regulatory elements (CREs) play a crucial role in gene regulation. Various approaches have been developed to map these interactions genome-wide, including...
“By using aberrant #genetranscription to reveal the function of #noncodingvariants, we developed cis-X to enable discovery of noncoding variants driving #cancer in individual tumor #genomes" - @StJudeResearch rna-seqblog.com/st-jude-resear…
Classification of non-coding variants with high pathogenic impact. #NonCodingVariants #PathogenicityPrioritization journals.plos.org/plosgenetics/a… @PLOSGenetics
Performance Comparison of Computational Prediction Methods for the Function and Pathogenicity of Non-coding Variants. #NonCodingVariants #FunctionPrediction #ToolsBenchmarking biorxiv.org/content/10.110… @biorxivpreprint #Bioinformatics
TVAR: Assessing Tissue-specific Functional Effects of Non-coding Variants with Deep Learning. #NonCodingVariants #DeepLearning #Bioinformatics academic.oup.com/bioinformatics…
academic.oup.com
TVAR: assessing tissue-specific functional effects of non-coding variants with deep learning
AbstractMotivation. Analysis of whole-genome sequencing (WGS) for genetics is still a challenge due to the lack of accurate functional annotation of non-co
A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies. #NonCodingVariants #WGSdata #Bioinformatics biorxiv.org/content/10.110…
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. #StructuralVariants #SVs #NoncodingVariants #Diagnostic #WGS #RareDiseases @GenomeMedicine genomemedicine.biomedcentral.com/articles/10.11…
WEVar: a novel statistical learning framework for predicting noncoding regulatory variants. #NonCodingVariants academic.oup.com/bib/advance-ar… @BriefingBioinfo
Great talk from @j_ellingford on interpreting #NonCodingVariants in @GenomicsEngland data with focus in ophthalmological disorders #LGN2022 @LdnGeneNet
The Impact of Rare Noncoding Variants scienceness.com/news/6667-the-… #Scienceness #TranscriptomeSequencing #NoncodingVariants #eQTLs #sQTLs
Reclutada durante años en Dpto. Genética @Hospital_FJD, el Servicio de Oftalmología del HU Clínico San Carlos y Fac Med Albacete. Esperamos además mejorar las tasas de caracterización genética 🧬, identificar nuevos genes, implicación #noncodingvariants 🧵
“Predicting the impact of #noncodingvariants is still a challenge” @alexisjbattle #WGS & #RNA-seq data GTEx #bog16 genomeweb.com/sequencing-tec…
#BankaGrpJC 03_2020 Journal Club on #Zoom! Last week we discussed this interesting article on #NoncodingVariants #SNPs rdcu.be/b3qej
Great talk from @j_ellingford on interpreting #NonCodingVariants in #RareDisease 🧬 Highlighted available New guidelines for standardized clinical variant interpretation & that Functional information & methods used are critical for variant interpretation. #LGN2022 @LdnGeneNet
Online now! Review discussing the basics of noncoding variant-mediated pathogenesis, the methodologies utilized, and how #iPSC -based heart models can be leveraged to dissect the mechanisms of #noncodingvariants ow.ly/wqcH50VlLGC @UBCcps @BCCHresearch @SBME_UBC @ISSCR
Reclutada durante años en Dpto. Genética @Hospital_FJD, el Servicio de Oftalmología del HU Clínico San Carlos y Fac Med Albacete. Esperamos además mejorar las tasas de caracterización genética 🧬, identificar nuevos genes, implicación #noncodingvariants 🧵
Non-coding variants impact cis-regulatory coordination in a cell type-specific manner. #NonCodingVariants #CisRegulatoryElements @GenomeBiology genomebiology.biomedcentral.com/articles/10.11…
link.springer.com
Non-coding variants impact cis-regulatory coordination in a cell type-specific manner
Genome Biology - Interactions among cis-regulatory elements (CREs) play a crucial role in gene regulation. Various approaches have been developed to map these interactions genome-wide, including...
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. #StructuralVariants #SVs #NoncodingVariants #Diagnostic #WGS #RareDiseases @GenomeMedicine genomemedicine.biomedcentral.com/articles/10.11…
Annotating and prioritizing human non-coding variants with RegulomeDB v.2. #NonCodingVariants #VariantsAnnotation #VariantsPrioritization @NatureGenet nature.com/articles/s4158…
Cell type–specific interpretation of noncoding variants using deep learning–based methods. #NonCodingVariants #DeepLearning #CellTypeVariants @GigaScience academic.oup.com/gigascience/ar…
academic.oup.com
Cell type–specific interpretation of noncoding variants using deep learning–based methods
Abstract. Interpretation of noncoding genomic variants is one of the most important challenges in human genetics. Machine learning methods have emerged rec
Great talk from @j_ellingford on interpreting #NonCodingVariants in @GenomicsEngland data with focus in ophthalmological disorders #LGN2022 @LdnGeneNet
Great talk from @j_ellingford on interpreting #NonCodingVariants in #RareDisease 🧬 Highlighted available New guidelines for standardized clinical variant interpretation & that Functional information & methods used are critical for variant interpretation. #LGN2022 @LdnGeneNet
TVAR: Assessing Tissue-specific Functional Effects of Non-coding Variants with Deep Learning. #NonCodingVariants #DeepLearning #Bioinformatics academic.oup.com/bioinformatics…
academic.oup.com
TVAR: assessing tissue-specific functional effects of non-coding variants with deep learning
AbstractMotivation. Analysis of whole-genome sequencing (WGS) for genetics is still a challenge due to the lack of accurate functional annotation of non-co
Recommendations for clinical interpretation of variants found in non-coding regions of the genome. #NonCodingVariants #Clinicalinterpretation @j_ellingford @nickywhiffin @GenomeMedicine genomemedicine.biomedcentral.com/articles/10.11…
Classification of non-coding variants with high pathogenic impact. #WGS #NonCodingVariants #FunctionalPrediction #DiseaseImpact #MachineLearning #Bioinformatics journals.plos.org/plosgenetics/a… @PLOSGenetics
Classification of non-coding variants with high pathogenic impact. #NonCodingVariants #PathogenicityPrioritization journals.plos.org/plosgenetics/a… @PLOSGenetics
A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies. #NonCodingVariants #WGSdata #Bioinformatics biorxiv.org/content/10.110…
Performance Comparison of Computational Prediction Methods for the Function and Pathogenicity of Non-coding Variants. #NonCodingVariants #FunctionPrediction #ToolsBenchmarking biorxiv.org/content/10.110… @biorxivpreprint #Bioinformatics
WEVar: a novel statistical learning framework for predicting noncoding regulatory variants. #NonCodingVariants academic.oup.com/bib/advance-ar… @BriefingBioinfo
Classification of non-coding variants with high pathogenic impact. #WGS #NonCodingVariants #FunctionalPrediction #DiseaseImpact #MachineLearning #Bioinformatics biorxiv.org/content/10.110…
New Topic "#NonCodingVariants: From #Interpretation to #PersonalizedMedicine" led by Drs Elvezia Maria Paraboschi @HumanitasMilano, Elisabetta Morini and Harrison Brand @Harvard and @hongheeW is open for submissions. Submit here: fro.ntiers.in/3oa7
“By using aberrant #genetranscription to reveal the function of #noncodingvariants, we developed cis-X to enable discovery of noncoding variants driving #cancer in individual tumor #genomes" - @StJudeResearch rna-seqblog.com/st-jude-resear…
#BankaGrpJC 03_2020 Journal Club on #Zoom! Last week we discussed this interesting article on #NoncodingVariants #SNPs rdcu.be/b3qej
“Predicting the impact of #noncodingvariants is still a challenge” @alexisjbattle #WGS & #RNA-seq data GTEx #bog16 genomeweb.com/sequencing-tec…
Online now! Review discussing the basics of noncoding variant-mediated pathogenesis, the methodologies utilized, and how #iPSC -based heart models can be leveraged to dissect the mechanisms of #noncodingvariants ow.ly/wqcH50VlLGC @UBCcps @BCCHresearch @SBME_UBC @ISSCR
New Topic "#NonCodingVariants: From #Interpretation to #PersonalizedMedicine" led by Drs Elvezia Maria Paraboschi @HumanitasMilano, Elisabetta Morini and Harrison Brand @Harvard and @hongheeW is open for submissions. Submit here: fro.ntiers.in/3oa7
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