Copy number variation ( CNV ) has been found to play an important role in human disease.
Next‐generation sequencing technology, including whole‐genome sequencing ( WGS ) and …

Motivation: As high-throughput sequencing (HTS) technology becomes ubiquitous and the
volume of data continues to rise, HTS read alignment is becoming increasingly rate-limiting, …

The alignment of long-read RNA sequencing reads is non-trivial due to high sequencing
errors and complicated gene structures. We propose deSALT, a tailored two-pass alignment …

Background With the rapid development of long-read sequencing technologies, it is possible
to reveal the full spectrum of genetic structural variation (SV). However, the expensive cost, …

Individuals have different symptoms of COVID-19 infection, which is not only caused by
environmental and socioeconomic factors. Many studies have pointed out that it is closely related …

Non-coding RNAs (ncRNAs) participate in multiple biological processes associated with
cancer as tumor suppressors or oncogenic drivers. Due to their high stability in plasma, urine, …

The de Bruijn graph, a fundamental data structure to represent and organize genome
sequence, plays important roles in various kinds of sequence analysis tasks. With the rapid …

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Cancer development and progression are significantly influenced by cancer driver genes.
Understanding cancer driver genes and their mechanisms of action is essential for developing …

Motivation Single-cell RNA sequencing (scRNA-seq) technologies allow us to interrogate the
state of an individual cell within its microenvironment. However, prior to sequencing, cells …