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

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....

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