Category: "Bioinformatics"

Genetic Conditions Screened in Newborns

April 13th, 2017
Genetic Conditions Screened in Newborns
As part of the health assessment of newborn babys, a test for common genetic conditions is done by drawing a few drops of blood from the heel of the baby and sending this off for analysis. Any positive results will then be followed up by confirmatory… more »

Comparing instance prices on the Amazon cloud

April 13th, 2017
As the largest cloud computing company¬†Amazon Web Services (AWS) offers various options to use compute-power¬†on a "as-needed" basis. You can choose what size and type of machine, what number of machines - and you can choose a price model where you are… more »

BCL files

December 30th, 2016
As part of the Primary Analysis Illumina sequencing machines measure the intensity of the channels used for encoding the different bases and identify the most likely base at a given position of a sequencing read (tag). The Real Time Analysis (RTA)… more »

CRAM format

January 7th, 2015
CRAM files are compressed versions of BAM files containing (aligned) sequencing reads. They represent further file size reduction for this type of data that is generated at ever increasing quantities. more »

NGS reads and their Scores

August 1st, 2014
Generating mapping quality scores For each alignment, BWA calculates a mapping quality score, which is the Phred-scaled probability of the alignment being incorrect. The algorithm is similar to MAQ's except that in BWA we assume the true hit can alwa… more »