Algorithm-Hardware Co-design for BQSR Acceleration in Genome Analysis ToolKit
Bibliographic record
Abstract
Genome sequencing is one of the key applications in healthcare and has a great potential to realize precision medicine and personalized healthcare. However, its computing process is very time consuming. Even pre-processing the raw sequence data of a whole genome for a single person to the analysis ready data can take several days on a single-core CPU.In this paper, we propose to accelerate the performance of the widely used Genome Analysis ToolKit (GATK) using FPGAs. More specifically, we focus on the algorithm and hardware co-design for the Base Quality Score Re-calibration (BQSR) step in GATK, which is an important and time-consuming step to correct systematic errors made by a sequencing machine. Prior studies did not consider hardware acceleration for BQSR because it requires a large amount of memory with random access and has a lot of control flow. To address these challenges, we first adapt the algorithm to resolve the random memory access conflicts to achieve a fully pipelined accelerator design and reduce its dataset size. Second, we leverage the newly introduced large-capacity UltraRAM (URAM) in Xilinx UltraScale+ FPGAs to butter BQSR’s large dataset on chip, and further optimize its operating frequency. Finally, we also explore the coarse-grained pipeline and parallelism to improve the overall performance of the BQSR accelerator. Compared to the latest software implementation of BQSR on GATK 4.1, running on single-thread and 56-thread CPUs (14nm Xeon E5-2680 v4), our FPGA accelerator running on Xilinx 16nmUltraScale+VCUl525 board achieves up to 40. 7x and 8. 5x speedups, respectively.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.013 | 0.005 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".