bioinformatics

Read-counting for PGT-A

Posted on

This is an introductory article about Pre-Implantation Genetic Testing for Aneuploidy (PGT-A, formerly known as PGS) using sequencing-based read-counting. The procedure is simplified and I am avoiding to talk about specific companies or products here. Increasing the chances of a successful pregnancy by looking at the embryos chromosomes During an IVF cycle there are in most […]

bioinformatics

CRAM format notes

Posted on

CRAM files are compressed versions of BAM files containing (aligned) sequencing reads. They represent a further file size reduction for this type of data that is generated at ever increasing quantities. Where SAM files are human-readable text files optimized for short read storage, BAM files are their binary equivalent, and CRAM files are a restructured […]

bioinformatics

BlueFuse Multi Errors

Posted on

When processing microarray or sequencing data with BlueGnome’s / Illumina’s BlueFuse Multi software information and errors are automatically recorded in a log file. By default this should be found in C:\ProgramData\BlueGnome\BlueFuse Multi\blueMarker.log Specifically for the VeriSeq PGS application the following error code might be listed: FailNone = 1, FailInvalidDB = 2, FailInvalidModules = 3, FailPlatform […]