Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA.
PEGASE, INRAE, Institut Agro, Rennes, Bretagne, France.
Am J Hum Genet. 2024 Jul 11;111(7):1282-1300. doi: 10.1016/j.ajhg.2024.05.005. Epub 2024 Jun 3.
Transcriptomics is a powerful tool for unraveling the molecular effects of genetic variants and disease diagnosis. Prior studies have demonstrated that choice of genome build impacts variant interpretation and diagnostic yield for genomic analyses. To identify the extent genome build also impacts transcriptomics analyses, we studied the effect of the hg19, hg38, and CHM13 genome builds on expression quantification and outlier detection in 386 rare disease and familial control samples from both the Undiagnosed Diseases Network and Genomics Research to Elucidate the Genetics of Rare Disease Consortium. Across six routinely collected biospecimens, 61% of quantified genes were not influenced by genome build. However, we identified 1,492 genes with build-dependent quantification, 3,377 genes with build-exclusive expression, and 9,077 genes with annotation-specific expression across six routinely collected biospecimens, including 566 clinically relevant and 512 known OMIM genes. Further, we demonstrate that between builds for a given gene, a larger difference in quantification is well correlated with a larger change in expression outlier calling. Combined, we provide a database of genes impacted by build choice and recommend that transcriptomics-guided analyses and diagnoses are cross referenced with these data for robustness.
转录组学是揭示遗传变异和疾病诊断的分子效应的强大工具。先前的研究表明,基因组构建的选择会影响基因组分析中变体的解释和诊断率。为了确定基因组构建是否也会影响转录组学分析,我们研究了 hg19、hg38 和 CHM13 基因组构建对 386 个来自未确诊疾病网络和阐明罕见病遗传学基因组研究联盟的罕见病和家族对照样本的表达定量和异常值检测的影响。在六个常规收集的生物样本中,61%的定量基因不受基因组构建的影响。然而,我们在六个常规收集的生物样本中发现了 1492 个具有构建依赖性定量的基因、3377 个具有构建特异性表达的基因和 9077 个具有注释特异性表达的基因,包括 566 个临床相关和 512 个已知的 OMIM 基因。此外,我们证明,对于给定基因,在构建之间的定量差异越大,表达异常值调用的变化就越大。综上所述,我们提供了一个受构建选择影响的基因数据库,并建议将转录组学指导的分析和诊断与这些数据进行交叉参考,以提高稳健性。