"Comprehensive genome analysis and variant detection at scale using DRAGEN"
"Here we present DRAGEN, which uses multigenome mapping with pangenome references, hardware acceleration and machine learning-based variant detection to provide insights into individual genomes, with ~30 min of computation time from raw reads to variant detection. DRAGEN outperforms current state-of-the-art methods in speed and accuracy across all variant types (single-nucleotide variations, insertions or deletions, short tandem repeats, structural variations and copy number variations) and incorporates specialized methods for analysis of medically relevant genes."
"In addition to the clear improvements of DRAGEN for [single nucleotide variants] SNVs (Fig. 2b,c), DRAGEN’s performance across SVs (>50 bp) was also improved. The DRAGEN results were compared to SV calls reported by Manta24 , Delly47 and Lumpy48 (Fig. 2d,e and Methods). For insertions, which are often the hardest for SV callers7, DRAGEN achieved an F-measure of 76.90%, which more than doubled the performance of Manta (34.90%) and Delly (4.70%; Lumpy did not report any insertions). This is due to multiple algorithmic innovations in DRAGEN (Supplementary Information)."
Assistant Professor at Georgetown University School of Medicine
4 个月of interest and see also: https://www.dhirubhai.net/pulse/only-ml-primateai-3d-could-learn-identify-alterations-ken-wasserman/?trackingId=qQ4mjiI7SjmgFVH0YEpFnQ%3D%3D
Industry Mentor | Ed Tech Design | Pioneer at the Frontier | Ecosystem Innovator
4 个月Great innovation ???? https://developer.illumina.com/dragen
Bioinformatics, Human Genetics
4 个月Wow, that's great news for someone who does these types of analysis but wait a minute how accessible it is ? Is it free, can i use it for my analysis if i don't have resources or buy the premium version, the answer is a big No. What about the other tools that Dragen was benchmarked with such as GATK, deep variant for SNV and Manta or let say Tiddit for SV almost they are all freely accessible, open source and can be used by anyone.