两篇文献

  1. Zook, J. M., Chapman, B., Wang, J., Mittelman, D., Hofmann, O., Hide, W., & Salit, M. (2014). Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls. Nature Biotechnology, 32(3), 246–251. http://doi.org/10.1038/nbt.2835
  2. Zook, J. M., Catoe, D., McDaniel, J., Vang, L., Spies, N., Sidow, A., … Salit, M. (2016). Extensive sequencing of seven human genomes to characterize benchmark reference materials. Scientific Data, 3, 160025. http://doi.org/10.1038/sdata.2016.25

相关组织

  • GIAB(Genome in a Bottle): a public-private-academic consortium hosted by NIST to develop the technical infrastructure (reference standards, reference methods, and reference data) to enable translation of whole human genome sequencing to clinical practice.

  • NIST(National Institute of Standards and Technology): founded in 1901 and now part of the U.S. Department of Commerce, one of the nation’s oldest physical science laboratories.

  • Coriell Institute for Medical Research: Providing essential research specimens and custom services to the scientific community, Coriell Biorepositories and Services is the international resource for exceptional science.

  • CEPH Resources(The Centre de’Etude du Polymorphism Humain): has contributed its collection of 61 reference families to the Repository.

  • NIST Reference Material: The Genome in a Bottle Consortium has selected several genomes to produce and characterize as reference materials. The National Institute of Standards and Technology (NIST) has developed NIST Reference Materials from these genomes, which are DNA extracted from a large homogenized growth of B lymphoblastoid cell lines from the NIGMS Human Genetic Cell Repository at Coriell Institute for Medical Research.

相关样本

  • NA12878: In 2015, NIST released the pilot genome Reference Material 8398, which is genomic DNA (NA12878) derived from a large batch of the Coriell cell line GM12878, characterized for high-confidence SNPs, indel, and homozygous reference regions (Zook, et al., Nature Biotechnology 2014).

  • four new GIAB reference materials: With the addition of four new reference materials (RMs) to a growing collection of “measuring sticks” for gene sequencing, the National Institute of Standards and Technology (NIST) can now provide laboratories with even more capability to accurately “map” DNA for genetic testing, medical diagnoses and future customized drug therapies

相关技术

下载链接

https://github.com/genome-in-a-bottle/giab_data_indexes