Sort   by:  
 Page size 

The development of improved spectrometers and supporting computational tools is expected to eventually enable the rapid annotation of whole metabolomes. However, rarely are novel mass spectrometers directly compared to the previously used ones in the field of metabolomics, thus preventing researc...

2020-01-24 | MTBLS1104 | MetaboLights
Data Access Committee EGAC00001000512
Exome sequencing reads of two UFM individuals and their family members (totally 11 individuals) belonging to two different Fragile X families. Alignment files in BAM format are provided.
Fragile X syndrome (FXS) is a monogenic neurodevelopmental disease often caused by a CGG triplet expansion in the 5’UTR of the FMR1 gene, which results in DNA methylation of the FMR1 promoter and its transcriptional silencing. Exceptional healthy individuals named "unmethylated full mutation (UFM)" ...
Sort   by:  
 Page size