2025年3月13日 · We have shown that simply visualizing and carefully examining the MECP2 gene in the patient’s BAM file using IGV software can reveal inappropriately mapped reads that may indicate the...

2020年8月20日 · Here we report a novel MECP2 gene structural rearrangement with non-coding sequence insertion in a girl with RTT. It was shown that such pathogenic genome variants could not be detected by the standard algorithm used for RTT diagnostics before the WGS technology started being applied.

2022年4月25日 · 第一步提取BAM文件. 如果要查看所有转录本的比对情况基本是不现实的（一般上百G），受限于电脑性能无法加载这么大的bam文件，所以查看reads的比对情况一般通过提取出map到基因组的其中一个Scaffold的所有reads的bam文件。

2020年4月24日 · We engineered a gene editing toolkit composed by a two-plasmid system to correct a hotspot missense variant in MECP2, c.473 C > T (p. (Thr158Met)). The first construct expresses the...

Incorporating SV detection into routine genetic testing through bioinformatic analysis of short-read sequencing or manual review using IGV could improve diagnostic rates and expand our...

2023年2月27日 · Integrative Genomics Viewer (IGV) v2.11.1 was used to examine spike-in normalized bigwig tracks at individual loci (Robinson et al., 2011). We extracted the integrated density at MeCP2 peaks ±3.5 kb of each filtered peak by using the bedtools function multicov for each BAM file generated (MeCP2, H3K27me3, and IgG).

2024年1月8日 · Here, we develop methods to identify transcription factor binding sites in modified DNA. Our models expand the standard A / C / G / T DNA alphabet to include cytosine modifications. We develop Cytomod to create modified genomic sequences and we also enhance the MEME Suite, adding the capacity to handle custom alphabets.

2023年3月7日 · Mutations in MeCP2 result in a crippling neurological disease, but we lack a lucid picture of MeCP2′s molecular role. Individual transcriptomic studies yield inconsistent differentially expressed genes. To overcome these issues, we demonstrate a methodology to analyze all modern public data.

2023年11月1日 · Here, we report a case of a female patient with adolescent-onset progressive myoclonus epilepsy (PME) carrying a novel truncating mutation in the MECP2 gene. The patient was a 29-year-old woman with infantile-onset intellectual disability of unspecified cause.

2025年3月13日 · While point mutations and large rearrangements in MECP2 are well studied, the role of small-intermediate structural variants (SVs) remains mostly elusive. Using standard short-read whole genome sequencing, we identified novel de novo SVs in three out of three previously unresolved RTT cases: a complex SV with two deletions ( ~ 5Kbp and ~60Kbp ...