deepvariant
DeepVariant, a deep learning-based variant caller, effectively identifies genetic variants across multiple sequencing data types such as NGS, RNA-seq, PacBio, and Oxford Nanopore. It is optimized for variant calling in diploid organisms, supporting whole genome and exome sequences. DeepVariant uses CNNs to transform aligned reads into pileup images, classifying and reporting genotypes with precision. Though primarily trained on human data, its functionality is enhanced for trio or duo data by tools like DeepTrio and GLnexus. It operates efficiently on various infrastructure, including cloud computing, offering a robust solution for precision genomic analysis.