We’re happy to introduce a dataset from the TruSight One Sequencing Panel, which provides comprehensive coverage of 4,813 genes with an associated clinical phenotype. With TruSight One, you can analyze all of the genes included in the panel, or focus on a specific subset of them. Labs can use this panel to expand existing assay offerings, streamline workflows, or create an entire portfolio of sequencing options.
This is a shared, downloadable dataset in BaseSpace representing a family trio using TruSightOne sequenced on a MiSeq using v3 reagents. This trio was obtained from the Coriell Institute’s NIGMS Human Genetic Cell Repository, and is from the CEPH/Utah Pedigree 1463.
|Sample ID||Sample Name||Details|
* From the Coriell Institute: “Donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream, resulting in a truncated, nonfunctional protein. Because of the aberrant splice site, a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682), resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.”
This data, along with other example datasets from a variety of sequencing runs, is available for import into your BaseSpace account from BaseSpace’s Public Data repository:
To access the data, click on the links (the full URLs are shown below) to view the Project (enrichment results) or the Run (sequencing results). You will be asked to “Accept” the Project or Run into your BaseSpace account. Once there, you can access or download the data.
Some stats for this dataset:
|Library Prep Kit||TruSight One Sequencing Panel|
|Sequencing Kits||MiSeq Reagent Kit, v3|
|Read Length||2 x 151 bp|
|Sample Multiplexing||3 samples|
|Sequencing Output||9.4 Gb|
|Cluster Density||1325 +/- 27 K/mm2|
|Cluster PF||92.25 +/- 0.74%|
|Reads PF||29.84 M|
|Total Aligned Reads||15,589,287 – 20,773,100|
|Read Enrichment||63.4% – 66.1%|
|Uniformity of Coverage (% > 0.2 of mean)||95.5% – 96.4%|
Run data link: https://basespace.illumina.com/s/7am28MijIfVt
Project data link: https://basespace.illumina.com/s/zSlj15ZMV4EA