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Bioinformatics Advances·· 7 天前精选AI 评分67

TorchGWAS 1.0 发布:GPU 加速大规模 GWAS

TorchGWAS 1.0: GPU-accelerated GWAS at scale

AI 导读

TorchGWAS 1.0 发布,这是一个用 GPU 批量运算对大量定量表型做协变量校正线性关联检验的框架。

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来源:Bioinformatics Advances · doi.org

推荐理由

面对数千个定量表型逐个做 GWAS 的算力瓶颈,该工具给出与 PLINK 2.0 一致的统计量和大规模运行时间。

论文摘要 · 原文

Motivation

Imaging, molecular and machine-learning workflows can generate thousands of quantitative phenotypes in one cohort. Repeating genome-wide scans trait by trait creates a computational and output bottleneck.

Results

TorchGWAS is a GPU-accelerated framework that uses batched operations for high-throughput, covariate-adjusted linear association testing across large panels of quantitative phenotypes. Across 500,036 allele-harmonized tests, its test statistics agreed with PLINK 2.0, with a Pearson correlation difference from one of 1.3 × 10⁻¹². On an NVIDIA H100 with 80 gigabytes of memory and a 48-core Intel Xeon Gold 6442Y host, median end-to-end runtimes for 4.57 billion associations spanning 8,931,083 variants, 512 phenotypes and 35,365 samples ranged from 28.46 to 58.95 seconds across four genotype formats. These measurements included writing 36.7 gigabytes of binary summary statistics. TorchGWAS supports efficient fixed-effect association screening at scale.

Availability and implementation

TorchGWAS is implemented in Python and distributed as a documented source repository at https://github.com/ZhiGroup/TorchGWAS.