Fig. 6: Analysis of repeat length and methylation status of the FMR1 locus.
From: Detection of genetic variation and base modifications at base-pair resolution on both DNA and RNA
a Histograms of the distribution of CGG repeat length for FMR1 on two DNA samples (HEK DNA, and the clinical sample, NA06896). The n represents the number of molecules identified in three categories, normal (<50 repeats), pre-mutation (50 to 200 repeats) and full-mutation (>200 repeats). b Cytosine methylation analysis of the CpG island located within the FMR1 promotor region of DNA sample NA06896. All CpG or non-CpG sites are represented on the X axis (the list and position of sites are in Supplementary Table 1). Molecules are ordered by repeat size and grouped by mutation status (normal, pre-mutation, full-mutation). Line graphs represent the frequency of molecules identified as methylated for a specific CpG or non-CpG site within this population. c The table summarizing the libraries prepared and the results obtained from these samples. (1) Amount of DNA used to prepare the library. (2) Amount of starting material injected in the flow cell. (3) Proportion of the flow cell analyzed. (4) Relative quantity of starting material analyzed. (5) Number of molecules analyzed on the MT platform and repartition according to the oligonucleotide binding pattern. (6) Quantification of FMR1 repeat size, N/A: Not included in the library preparation.
