Top Tweets for #ExpansionHunter
Fast and reliable detection of repeat expansions in spinocerebellar #ataxia using exomes (#ExpansionHunter)
➡️ https://t.co/TI0mrlrLmy
Jean-Loup Méreaux & Alexandra Durr (@InstitutCerveau)
@JMdeSteAgathe #Genetics #Genomics #Bioinformatics

Looking for VCF file with genotyped tandem repeats for human populations (big sample size, any population). Can anyone please point me to the right dataset? Found many papers, but not easy access. Thanks a lot! #bioinformatics #ExpansionHunter #GangSTR #HipSTR #AdVNTR #PopSTR
👏Well done to @MikeEberle and team for developing #ExpansionHunter to help those using rapid cWGS for diagnosis of rare diseases!🧬
This tool is available through the latest version of DRAGEN v3.8 🐉(and freely on @github)
@MikeEberle I need something that just auto-pulls your latest tools for NGS data for me and installs it directly into my research pipelines 😂
A link has been found between repetitive stretches of DNA called tandem repeats and autism spectrum disorder. The discovery might inform approaches to studying tandem repeats in a wide range of other human disorders.
#autism #ExpansionHunter https://t.co/V0RMk5HTUC

This work presented shows the power of #expansionhunter on STR identification even on #WES. Important and thrilling! #eshg2020
Now speaking in VR1 our PhD student Bart van derSanden on STR repeat expansions in almost 40k patient exomes #ESHG2020
An important tool in the tooklit: #ExpansionHunter for analysing repeat regions using affordable #shortread #NGS technologies
@SheffBioinfCore @MikeEberle Here's the excellent figure from their paper which gives some visuals on the types of evidence used by #ExpansionHunter @MikeEberle.
#ExpansionHunter is now live at @genomeresearch! Great collaboration with @egor_dolzhenko & @MikeEberle from @illumina https://t.co/LnBmXQ4lhE
Detecting long repeats in #ALS: @illumina-led @genomeresearch pub w/NYGC's @gnarzisi, Cat Reeves, Lara Winterkorn: https://t.co/OBl3VhMJjd
Following paper, Richard explains early work with #expansionHunter testing Fragile X #genomes for repeat expansions https://t.co/ua734lVWaF
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