Study
Synthetic data - Genome in a Bottle
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001005591 | Other |
Study Description
In May, the National Institute of Standards and Technology (NIST) released its first genome in a bottle, a reference sample of DNA for validating human genome sequences. This so-called truth sequence comes from a decades-old sample donated by a Utah woman for (other) research purposes (NA12878 cell line), which, over the years, has been one of the most studied, and hence best-characterized, human samples. Seeing genomic medicine moving toward mainstream healthcare, researchers at NIST recognized the need for a reference human genome and assembled a private-public consortium in 2012 to create one. As detailed in a 2014 Nature Biotechnology paper (Nat. Biotechnol.32, 246–251, 2014), the group integrated and arbitrated among sequences from 14 data sets, five sequencing technologies, seven read mappers and three variant callers.
Study Datasets 3 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001008095 |
This dataset contains whole genome sequencing data, based in BAM files of three trio members. These BAM files contain information of chromsomes 21, X, Y and mitochondrial.
|
3 | |
EGAD00001008096 |
This dataset contains whole genome sequencing data, based in paired end Fastq files of three trio members.
|
Illumina HiSeq 2500 | 3 |
EGAD00001008097 |
This dataset contains whole genome sequencing data, based in VCF of three trio members.
|
3 |
Who archives the data?

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