Search bioRxiv⌕ Search

Biology subjects

Yuhara, S.

Publications and source records attributed to Yuhara, S..

2 recordsLinked to original sources

HiCUP-Plus: a fast open-source pipeline for accurately processing large scale Hi-C sequence data

Hi-C is an unbiased genome-wide assay to study 3D chromosome conformation and gene-regulation. The HiCUP pipeline is an open-source tool to process Hi-C from massively parallel sequencing while accounting for biases specific to the restriction enzyme digests used. It is an excellent solution tailored to analyse this technique, however the latest aligner supported by the current release is Bowtie2. To improve the computational performance and mapping accuracy when using the HiCUP pipeline, we have modified it to optionally call the HiSAT2 and Dragen aligners. This allows using the HiCUP pipeline with 3rd party aligners, including the commercially-licensed high performance Dragen aligner. The HiCUP+ pipeline is modified extensively to be compatible with Dragen outputs while ensuring that the same results as the original pipeline can be reproduced with the Bowtie or Bowtie2 aligners. Using the highly accurate HiSAT2 or Dragen aligners produces larger outputs with a higher proportion of uniquely mapped read pairs. It is therefore feasible to leverage the reduced compute-time of Dragen to reduce compute costs and turnaround-time without compromising quality of results. The HiCUP pipeline and Dragen both compute rich summary information.

bioinformatics↗

Evaluation of the effects of SARS-CoV-2 genetic mutations on diagnostic RT-PCR assays

Several mutant strains of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are emerging. Mismatch(es) in primer/probe binding regions would decrease the detection sensitivity of the PCR test, thereby affecting the results of clinical testing. In this study, we conducted an in silico survey on SARS-CoV-2 sequence variability within the binding regions of primer/probe published by the Japan National Institute of Infectious Diseases (NIID) and Centers for Disease Control and Prevention (CDC). In silico analysis revealed the presence of mutations in the primer/probe binding regions. We performed RT-PCR assays using synthetic RNAs containing the mutations and showed that some mutations significantly decreased the detection sensitivity of the RT-PCR assays. Our results highlight the importance of genomic monitoring of SARS-CoV-2 and evaluating the effects of mismatches on PCR testing sensitivity.

molecular biology↗