IBRE

Bioinformatics Hackathon 2023 results presentations are already live:

Bioinformatics and Biostatistics Hackathon 2023 | Project results presentation This is a live stream from Yerevan, Armenia, where the participants of the Bioinformatis and Biostatistics Hakaathon 2023 will present the results of their 4...

Today, June 22 at 18:00 CET, is our third Bioinformatics Club online meeting dedicated to the discussion of virtual environments and their usage in bioinformatics.

Details:

IBRE Bioinformatics Club Seminars dedicated to discussing bioinformatics

We are excited to announce the first online session of the IBRE Bioinformatics Club!

Bioinformatics Club is a series of online meetings dedicated to the discussion of key topics of modern computational biology and bioinformatics. Our goal is to provide a platform for both skilled bioinformaticians and newcomers to talk about best practices in data analysis and interpretation of results.

During the first session, we will discuss methods for efficient and reproducible research, including construction of bioinformatic pipelines, environments, documentation, and much more!

Meetings will be held online via Zoom every two weeks on Thursday evenings at 6 pm CET. The first meeting is scheduled for 25 May 2023. To attend the seminars, please register:

IBRE Bioinformatics Club Seminars dedicated to discussing bioinformatics

We're pleased to announce the release of our first preprint on bioRxiv, which can be accessed at https://www.biorxiv.org/content/10.1101/2023.04.28.538608v1

The work continues our recent efforts to find an optimal strategy for NGS data analysis in medical genetics. Following up on our analysis of pipelines for variant calling (read our previous work at https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-022-08365-3), we present an analysis of the impact of adapters on the accuracy of genetic variant identification.

Our findings indicate that many commonly used methods, such as DeepVariant or GATK-HC, do not show any significant dependence on adapter removal. However, some of the machine learning-based tools show greater sensitivity to the presence of adapters.

Based on our results, we suggest that adapter trimming is not necessary when calling germline short variants in single-sample mode. However, data preprocessing has to be carefully considered when building predictive models for bioinformatics.

Negligible effects of read trimming on the accuracy of germline short variant calling in the human genome Next generation sequencing (NGS) has become a standard tool in the molecular diagnostics of Mendelian disease, and the precision of such diagnostics is greatly affected by the accuracy of variant calling from sequencing data. Recently, we have made a comprehensive evaluation of the performance of mu...