Genome in a Bottle Ashkenazim Trio - PacificBiosciences/DevNet GitHub Wiki

Instrument:  PacBio RS II
Chemistry:  C3 & C4
Enzyme: P5 & P6

Summary

These data are part of a diverse set of data from 11 technologies generated by the Genome in a Bottle Consortium (www.genomeinabottle.org) hosted by NIST. PacBio libraries were prepared by NIST and sequenced at Mt. Sinai. Data is from the GIAB Ashkenazim son-father-mother trio from the Personal Genome Project (HG002, HG003, HG004), which are candidate NIST Reference Materials planned for release in early 2016. The cell lines and DNA are currently available from Coriell as GM24385,GM24149, and GM24143.

The coverage is 69X, 32X, and 30X for HG002, HG003, and HG004, respectively. 89.7% of the data is from P6-C4 chemistry, and the remaining from P5-C3 chemistry. The Readme file with complete dataset details is here.

A paper describing these data and other data from GIAB is on biorxiv, which should be cited if these data are used. Those interested in analyzing these data are welcome to participate in the GIAB Analysis Team (https://groups.google.com/forum/#!forum/giab-analysis-team), which is developing high-confidence variant calls of all types for these genomes to establish them as benchmarks.

Download Dataset

NIST Human HG002 NA24385 (Ashkenazim Trio Son) PacBio dataset on NCBI FTP site here.

NIST Human HG003 NA24149 (Ashkenazim Trio Father) PacBio dataset coverage on NCBI FTP site here.

NIST Human HG004 NA24143 (Ashkenazim Trio Mother) PacBio dataset coverage on NCBI FTP site here.