Boosting variant-calling performance with multi-platform sequencing data using Clair3-MP.

ABSTRACT:

Background

With the continuous advances in third-generation sequencing technology and the increasing affordability of next-generation sequencing technology, sequencing data from different sequencing technology platforms is becoming more common. While numerous benchmarking studies have been conducted to compare variant-calling performance across different platforms and approaches, little attention has been paid to the potential of leveraging the strengths of different platforms to optimize overall performance, especially integrating Oxford Nanopore and Illumina sequencing data.

Results

We investigated the impact of multi-platform data on the performance of variant calling through carefully designed experiments with a deep learning-based variant caller named Clair3-MP (Multi-P

SUBMITTER: Yu H 

PROVIDER: S-EPMC10401749 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature