-
Hi,
I am trying to test what is the minimum read coverage that can still be considered identifying information for a sample, starting by testing my own data.
I *could* successfully identify my o…
-
If phenopackets are going to reference actual data objects/files, it should likely use a URI. For a local file this could be `file://`, and that would make it relatively easy to use the emerging GA4GH…
-
Currently, when you select a data source to use with imputer, you are unable to select which file uploaded to that data source should be processed. As some data sources such as 23andme upload allow yo…
-
-
Might be worthwhile adding a non-HTS files to enable other related information such as expression data, GWAS arrays or other panels for epigenetic markers.
-
-
For the last couple of days, my dashboard on Imputer has continued to say that there are 4 individuals ahead of me in the pipeline. Prior to this, the number had been decreasing as expected - one fewe…
-
https://www.ncbi.nlm.nih.gov/sra/?term=SRP132561
Cant extract any data from bam files which are made of fastq using latest BWA and samtools. Ref. fasta is latest GRchr37.75. But "Bam analysis kit" ex…
-
* We will have support from ThermoFisher and AkesoGen for performing imputation over the PMRA, but what is the equivalent support and software tooling that will allow us to do the same for raw 23andMe…
-
* Test with several 23andMe files
* Assume raw files are in `s3://{env}-precisely-genetics-raw-23andme`
* Output files go in `s3://{env}-precisely-genetics-vcf`
Where env = `dev` for the time …