#pathogenicvariants - Twitter Hashtag

Annals of Surgical Oncology @AnnSurgOncol

3 months ago

#AudioVisualAbstract : Surgical Choice among Women with a First #BreastCancer and #PathogenicVariants in Breast Cancer Genes @DrK_Larson17 https://t.co/ygvqRKUkw4 @belenmerck @SyedAAhmad5

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PAI

@pai_eaaci

about 2 years ago

The #reviewarticle “Analysis of #LRBA #PathogenicVariants and the association with functional #ProteinDomains and clinical presentation” published in the #PAI_Journal is available! Here: 🔗 https://t.co/YZ7hQ2L3vf . @lohegabyqbp

pai_eaaci's tweet photo. The #reviewarticle “Analysis of #LRBA #PathogenicVariants and the association with functional #ProteinDomains and clinical presentation” published in the #PAI_Journal is available!
Here: 🔗 https://t.co/YZ7hQ2L3vf
.
@lohegabyqbp https://t.co/9PqTvM7oh6

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CUHK Medicine

@CUHKMedicine

almost 3 years ago

Our collaborative study with Baylor College of Medicine (@bcmhouston) revealed for the first time that #pathogenicvariants in DHX9 disrupted the gene’s normal function and that defective changes in DHX9 underlie human #neurodevelopmental problems. https://t.co/0UyMqtLMMi 📖@AJHGNews: https://t.co/tLKTa5fbTv @CUHKSBS

CUHKMedicine's tweet photo. Our collaborative study with Baylor College of Medicine (@bcmhouston) revealed for the first time that #pathogenicvariants in DHX9 disrupted the gene’s normal function and that defective changes in DHX9 underlie human #neurodevelopmental problems. https://t.co/0UyMqtLMMi

📖@AJHGNews: https://t.co/tLKTa5fbTv

@CUHKSBS

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Javier Santoyo @jsantoyo

almost 3 years ago

Pathogenic signal peptide variants in the human genome. #PathogenicVariants #HumanGenome #NARgenomicsAndBioinformatics https://t.co/nYy1jA6zgT

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Javier Santoyo @jsantoyo

over 3 years ago

Predicting the pathogenicity of missense variants using features derived from AlphaFold2. #MissenseVariants #ProteinStructure #PathogenicVariants #Bioinformatics https://t.co/ygLT6PpHct

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Genetics in Medicine @GIMJournal

over 3 years ago

One size does not fit all. Disease specific tools may be more accurate in identifying disease-specific #pathogenicvariants compared to pan-genome and pan-disease specific tools. #machinelearning #eyedisease https://t.co/Jrg8gqeOMe

GIMJournal's tweet photo. One size does not fit all. Disease specific tools may be more accurate in identifying disease-specific #pathogenicvariants compared to pan-genome and pan-disease specific tools. #machinelearning #eyedisease https://t.co/Jrg8gqeOMe https://t.co/1gfrwnTosx

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Javier Santoyo @jsantoyo

over 3 years ago

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants. #PathogenicVariants #DNAbatching #WGS #PopulationgGenomics @GenomeMedicine https://t.co/xRGM16Iu3c

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BioNews Central @bionewscentral

over 4 years ago

#BRCA #PathogenicVariants linked to breast and #OvarianCancer are also involved in several other #cancers, including those that affect #men. #BreastCancer #ProstateCancer #PancreaticCancer #CancerRisk #GeneticVariants #BRCAmutations https://t.co/QcTnwYC1v8

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Dr Sabrina @doctor_sabrina

over 7 years ago

Privileged to have been part of this w/ @myESMO @MSKPathology @clare__turnbull. Data suggests considerable overlap between #somatic & #germline #pathogenicvariants in #cancerpredispositiongenes. Useful recommendations how we can use this data most effectively in clinical practice

ESMO - Eur. Oncology

@myESMO

over 7 years ago

Germline-Focused Analysis of Tumour-Only Sequencing: Recommendations from the ESMO Precision Medicine Working Group @FAndreMD ⁦ @clare__turnbull @Annals_Oncology https://t.co/bS5ImkuWrW