Le Li

TL;DR: Analyzing optical genome maps of 154 individuals from the 26 populations sequenced in the 1000 Genomes Project, it is found that phylogenetic population patterns of large SVs are similar to those of single nucleotide variations in 86% of the human genome, while ~2% ofThe genome has high structural complexity.

TL;DR: A miR-199a/miR-214/PSMD10/TP53/DNMT1 self-regulatory network, which might be a potential therapeutic target in the treatment of TGCT is highlighted.

TL;DR: OMSV has high sensitivity and specificity, with clear performance gains over the latest method, and is applied to a human cell line, and identified hundreds of SVs >2 kbp, with 68 % of them missed by sequencing-based callers.

TL;DR: It is found that 5mC and 5hmC signals correlate with gene expression in the same direction in most samples, and this finding confirms a previous finding that methylation signals at transcript bodies are more indicative of gene expression levels than promotermethylation signals.

TL;DR: It is found that 5mC and 5hmC signals correlate with gene expression in the same direction in most samples, but considering both types of signals increases the accuracy of expression levels inferred from methylation data by a median of 18.2% as compared to having only standard WGBS data, showing that the two forms of methylation provide complementary information about gene expression.