#RareGeneticVariants - Twitter Hashtag

9 months ago

110 Signs You Might Have a Rare DNA Variant (and No, It Won’t Turn You Into a Superhero… Probably)IntroductionEveryone has DNA, but some people have it… https://t.co/Hp1m0XogsE #RareDNA #Raregeneticvariants #UnusualDNAtraits #Humangenetics #Geneticcuriosities

OgeeCircleman's tweet photo. 110 Signs You Might Have a Rare DNA Variant (and No, It Won’t Turn You Into a Superhero… Probably)IntroductionEveryone has DNA, but some people have it… https://t.co/Hp1m0XogsE #RareDNA #Raregeneticvariants #UnusualDNAtraits #Humangenetics #Geneticcuriosities https://t.co/nfv9eVifh1

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Javier Santoyo @jsantoyo

11 months ago

Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants. #DNAlanguageModels #RareGeneticVariants #PathogenicityPrediction #JournalHumanGenetics https://t.co/LxPIbStmPc

jsantoyo's tweet photo. Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants. #DNAlanguageModels #RareGeneticVariants #PathogenicityPrediction #JournalHumanGenetics
https://t.co/LxPIbStmPc https://t.co/XmsxZK3KaA

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Javier Santoyo @jsantoyo

about 3 years ago

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. #Splicing #RareGeneticVariants #Genetics https://t.co/HYK7XKcXjW

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Javier Santoyo @jsantoyo

over 3 years ago

Rare genetic variants underlie outlying levels of DNA methylation and gene-expression. #RareGeneticVariants #DNAmethylation #LothianBirthCohorts #HumanMolecularGenetics https://t.co/wSCPMbeq67

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Medical Xpress

@medical_xpress

over 3 years ago

New informatics software helps identify #raregeneticvariants @iumedschool @naturemethods https://t.co/SBZKCAdJTX https://t.co/jKJmzPNl5L

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Javier Santoyo @jsantoyo

almost 4 years ago

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank. #CNVs #VariantCalling #RareGeneticVariants #GATK #Benchmarking #ExomeSequencing #WES #UK_Biobank #Mehrtash_Babadi @biorxivpreprint https://t.co/aMd5NLgIdm

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Medical Xpress

@medical_xpress

almost 4 years ago

New online resource helps connect #raregeneticvariants to human health and disease @broadinstitute https://t.co/gfZTxH7DTv https://t.co/Io8RqDsARU

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Medical Xpress

@medical_xpress

about 4 years ago

#Raregeneticvariants not the major contributing factors to #commondiseases @UU_University https://t.co/sxdRfMNWba https://t.co/NF7Q6XiiXE

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From the Labs at Baylor College of Medicine @BCMFromtheLabs

over 4 years ago

Great news for @awzoghbi et al's paper about the high-impact #rareGeneticVariants in severe #schizophrenia! The paper, mentioned below by @NIHDirector, is in the 99th percentile of all papers in terms of the attention it is receiving! @bcmgenetics @PNASNews @NIMHgov

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