Extensive sequencing of seven human genomes to characterize benchmark reference materials

@inproceedings{Zook2016ExtensiveSO,
  title={Extensive sequencing of seven human genomes to characterize benchmark reference materials},
  author={Justin M. Zook and David Catoe and Jennifer H McDaniel and Lindsay Vang and Noah Spies and Arend Sidow and Ziming Weng and Yuling Liu and Christopher E. Mason and Noah Alexander and Elizabeth Henaff and Alexa B. R. McIntyre and Dhruva Chandramohan and Feng Hua Chen and Erich Jaeger and Ali Moshrefi and Khoa Chau Pham and William Stedman and Tiffany Y. Liang and Michael Saghbini and Željko D{\vz}akula and Alex R Hastie and Han Cao and Gintaras Deikus and Eric E. Schadt and Robert P. Sebra and Ali Bashir and Rebecca M. Truty and Christopher Chia-Chi Chang and Natali Gulbahce and Keyan Zhao and Srinka Ghosh and Fiona C. Hyland and Yutao Fu and Mark Chaisson and Chunlin Xiao and Jonathan Trow and Stephen T. Sherry and Alexander Wait Zaranek and Madeleine Ball and Jason R. Bobe and Preston Estep and George M Church and Patrick Marks and Sofia Kyriazopoulou-Panagiotopoulou and Grace X. Y. Zheng and Michael Schnall-Levin and Heather S. Ordonez and Patrice A. Mudivarti and Kristina M. Giorda and Ying G Sheng and Karoline Bjarnesdatter Rypdal and Marc Salit},
  booktitle={Scientific data},
  year={2016}
}
The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST) is creating reference materials and data for human genome sequencing, as well as methods for genome comparison and benchmarking. Here, we describe a large, diverse set of sequencing data for seven human genomes; five are current or candidate NIST Reference Materials. The pilot genome, NA12878, has been released as NIST RM 8398. We also describe data from two Personal Genome Project trios, one… CONTINUE READING
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References

Publications referenced by this paper.
SHOWING 1-10 OF 17 REFERENCES

Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology

  • H Cao
  • Gigascience 3,
  • 2014

Current Protocols in Bioinformatics

  • Van der Auwera, A G.
  • Curr. Protoc. Bioinforma
  • 2013

A framework for variation discovery and genotyping using next-generation DNA sequencing data

  • DePristo, A M.
  • Nat. Genet
  • 2011

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