#NoncodingVariants - Twitter Hashtag

over 1 year ago

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 https://t.co/UJ585BtDQw @UBCcps @BCCHresearch @SBME_UBC @ISSCR

stemcellreports's tweet photo. 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 https://t.co/UJ585BtDQw

@UBCcps @BCCHresearch @SBME_UBC @ISSCR https://t.co/ZXmuF1doca

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Javier Santoyo @jsantoyo

almost 2 years ago

Non-coding variants impact cis-regulatory coordination in a cell type-specific manner. #NonCodingVariants #CisRegulatoryElements @GenomeBiology https://t.co/Rfb2wLDUcC

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Javier Santoyo @jsantoyo

over 2 years ago

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. #StructuralVariants #SVs #NoncodingVariants #Diagnostic #WGS #RareDiseases @GenomeMedicine https://t.co/Bt7B2eRXop

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Javier Santoyo @jsantoyo

about 3 years ago

Annotating and prioritizing human non-coding variants with RegulomeDB v.2. #NonCodingVariants #VariantsAnnotation #VariantsPrioritization @NatureGenet https://t.co/CW0PXHF0dK

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Javier Santoyo @jsantoyo

over 3 years ago

Cell type–specific interpretation of noncoding variants using deep learning–based methods. #NonCodingVariants #DeepLearning #CellTypeVariants @GigaScience https://t.co/W8ffaizQ5W

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hmorsy @hmorsy80

over 3 years ago

Great talk from @j_ellingford on interpreting #NonCodingVariants in @GenomicsEngland data with focus in ophthalmological disorders #LGN2022 @LdnGeneNet

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Yalda Jamshidi @YaldaJamshidi

over 3 years ago

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

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Javier Santoyo @jsantoyo

almost 4 years ago

TVAR: Assessing Tissue-specific Functional Effects of Non-coding Variants with Deep Learning. #NonCodingVariants #DeepLearning #Bioinformatics https://t.co/LaikWhyYY6

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Javier Santoyo @jsantoyo

almost 4 years ago

Recommendations for clinical interpretation of variants found in non-coding regions of the genome. #NonCodingVariants #Clinicalinterpretation @j_ellingford @nickywhiffin @GenomeMedicine https://t.co/qhL0kXbdSl

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Javier Santoyo @jsantoyo

about 4 years ago

Classification of non-coding variants with high pathogenic impact. #WGS #NonCodingVariants #FunctionalPrediction #DiseaseImpact #MachineLearning #Bioinformatics https://t.co/cD3txK4wnt @PLOSGenetics

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Javier Santoyo @jsantoyo

about 4 years ago

Classification of non-coding variants with high pathogenic impact. #NonCodingVariants #PathogenicityPrioritization https://t.co/cD3txK3YxV @PLOSGenetics

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Javier Santoyo @jsantoyo

over 4 years ago

A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies. #NonCodingVariants #WGSdata #Bioinformatics https://t.co/Tojnz7QTHc

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Javier Santoyo @jsantoyo

over 4 years ago

Performance Comparison of Computational Prediction Methods for the Function and Pathogenicity of Non-coding Variants. #NonCodingVariants #FunctionPrediction #ToolsBenchmarking https://t.co/32BODKNLH1 @biorxivpreprint #Bioinformatics

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Javier Santoyo @jsantoyo

about 5 years ago

Classification of non-coding variants with high pathogenic impact. #WGS #NonCodingVariants #FunctionalPrediction #DiseaseImpact #MachineLearning #Bioinformatics https://t.co/1vXBUtkAND

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Siddharth Banka @smbanka

over 5 years ago

https://t.co/S0MwivvQD5 Shows the value of studying small groups of patients So much remains to be discovered in #RareDiseases Its not just about #Bigdata in #Genomics ! #NonCodingVariants Inspirational work 👏 @MundlosLab

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RNA-Seq Blog @RNASeqBlog

almost 6 years ago

“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 https://t.co/5cx4m7BlI9

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