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journalnd.bsky.social
📄 New review in JND: Somatic instability in DM1

CTG repeat expansions:
• Grow over time
• Vary by tissue (muscle > blood)
• Are shaped by DNA repair (MMR, FAN1)
Read the open access review here: buff.ly/VcelXQu

#DM1 #RepeatExpansion #Genetics #RareDisease
April 20, 2026 at 11:01 AM
dennypopp.bsky.social
Hot off the press: Evaluation of Automated Magnetic Bead–Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing - Journal of Clinical Laboratory Analysis onlinelibrary.wiley.com/doi/10.1002/... #RepeatExpansion #Nanopore #Genomics #DNA
Evaluation of Automated Magnetic Bead–Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing
This study may help other laboratories to evaluate their DNA extraction method regarding the suitability for detecting repeat expansions with nanopore sequencing. We evaluated an automated magnetic b....
onlinelibrary.wiley.com
March 23, 2024 at 9:46 PM
rnajournal.bsky.social
Therapeutic strategies for Fragile X Syndrome (FXS) aimed at CGG repeat contraction, demethylation of the FMR1 gene, and elimination of the FMR1-217 isoform to restore normal FMR1 expression and FMRP levels bit.ly/4i2UpF2
#FragileXSyndrome #Repeatexpansion #Splicingdysregulation
June 20, 2025 at 2:03 PM