McDaniel Jennifer H, Patel Vaidehi, Olson Nathan D, He Hua-Jun, He Zhiyong, Cole Kenneth D, Schmitt Anthony, Sikkink Kristin, Sedlazeck Fritz J, Doddapaneni Harsha, Jhangiani Shalini N, Muzny Donna M, Gingras Marie-Claude, Mehta Heer, Paulin Luis F, Hastie Alex R, Yu Hung-Chun, Weigman Victor, Rojas Alison, Kennedy Katie, Remington Jamie, Gonzalez Isai, Sudkamp Mitch, Wiseman Kelly, Lajoie Bryan R, Levy Shawn, Jain Miten, Akeson Stuart, Narzisi Giuseppe, Steinsnyder Zoe, Reeves Catherine, Shelton Jennifer, Kingan Sarah B, Lambert Christine, Bayabyan Primo, Wenger Aaron M, McLaughlin Ian J, Adamson Aaron, Kingsley Christopher, Wescott Melanie, Kim Young, Paten Benedict, Park Jimin, Violich Ivo, Miga Karen H, Gardner Joshua, McNulty Brandy, Rosen Gail, McCoy Rajiv, Brundu Francesco, Sayyari Erfan, Scheffler Konrad, Truong Sean, Catreux Severine, Hannah Lesley Chapman, Lipson Doron, Benjamin Hila, Iremadze Nika, Soifer Ilya, Eacker Stephen, Wood Mary, Cross Erin, Husar Greg, Gross Stephen, Vernich Michael, Kolmogorov Mikhail, Ahmad Tanveer, Keskus Ayse, Bryant Asher, Thibaud-Nissen Francoise, Trow Jonathan, Proszynski Jacqueline, Hirschberg Jeremy W, Ryon Krista, Mason Christopher E, Wagner Justin, Xiao Chunlin, Liss Andrew S, Zook Justin M
Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD 20899, USA.
Arima Genomics, Inc., 6354 Corte Del Abeto Suite B, Carlsbad, CA 92011, USA.
bioRxiv. 2024 Oct 18:2024.09.18.613544. doi: 10.1101/2024.09.18.613544.
The Genome in a Bottle Consortium (GIAB), hosted by the National Institute of Standards and Technology (NIST), is developing new matched tumor-normal samples, the first to be explicitly consented for public dissemination of genomic data and cell lines. Here, we describe a comprehensive genomic dataset from the first individual, HG008, including DNA from an adherent, epithelial-like pancreatic ductal adenocarcinoma (PDAC) tumor cell line and matched normal cells from duodenal and pancreatic tissues. Data for the tumor-normal matched samples comes from thirteen distinct state-of-the-art whole genome measurement technologies, including high depth short and long-read bulk whole genome sequencing (WGS), single cell WGS, and Hi-C, and karyotyping. These data will be used by the GIAB Consortium to develop matched tumor-normal benchmarks for somatic variant detection. We expect these data to facilitate innovation for whole genome measurement technologies, assembly of tumor and normal genomes, and bioinformatic tools to identify small and structural somatic mutations. This first-of-its-kind broadly consented open-access resource will facilitate further understanding of sequencing methods used for cancer biology.
由美国国家标准与技术研究院（NIST）主办的“瓶中基因组联盟”（GIAB）正在开发新的匹配肿瘤-正常样本，这是首个明确同意公开传播基因组数据和细胞系的样本。在此，我们描述了来自首个个体HG008的综合基因组数据集，包括来自贴壁的上皮样胰腺导管腺癌（PDAC）肿瘤细胞系的DNA以及来自十二指肠和胰腺组织的匹配正常细胞。肿瘤-正常匹配样本的数据来自13种不同的先进全基因组测量技术，包括高深度短读长和长读长批量全基因组测序（WGS）、单细胞WGS、Hi-C以及核型分析。GIAB联盟将使用这些数据来开发用于体细胞变异检测的匹配肿瘤-正常基准。我们期望这些数据能够促进全基因组测量技术、肿瘤和正常基因组组装以及识别小的和结构性体细胞突变的生物信息学工具的创新。这种首个获得广泛同意的开放获取资源将有助于进一步了解用于癌症生物学的测序方法。
