Han Fang

TL;DR: NGMLR and Sniffles perform highly accurate alignment and structural variation detection from long-read sequencing data and can automatically filter false events and operate on low-coverage data, thereby reducing the high costs that have hindered the application of long reads in clinical and research settings.

TL;DR: GenomeScope is an open‐source web tool to rapidly estimate the overall characteristics of a genome, including genome size, heterozygosity rate and repeat content from unprocessed short reads, which are essential for studying genome evolution.

TL;DR: This paper demonstrates that the self-attention mechanism of the Transformer can be approximated by a low-rank matrix, and proposes a new self-Attention mechanism, which reduces the overall self-ATTention complexity from $O(n^2)$ to $O (n)$ in both time and space.

TL;DR: Scalpel's power to detect long (≥30 bp) transmitted events and enrichment for de novo likely gene-disrupting indels in autistic children and a detailed repeat analysis coupled with a self-tuning k-mer strategy allows Scalpel to outperform other state-of-the-art approaches for indel discovery.

TL;DR: This work characterized whole genome sequencing, whole exome sequencing, and PCR-free sequencing data from the same samples to investigate the sources of INDEL errors and developed a classification scheme based on the coverage and composition to rank high and low quality INDEL calls.