Bonn WES is a project between Bonn-University and Fundació ACE
Dr. Alfredo Ramirez, from Univeristy of Bonn, had about 400 samples from patients with late onset Alzheimer's disease that he sent to the Cologne Center for Genomics sequencing center varbank. There, samples followed standard procedures for exome sequencing, from library preparation, passing by Illumina sequencing, and informatic processing in order to provide the client with ready to analyze files. At varbank server there are stored the files from the 400 exomes. varbank server keeps the raw files from the sequencer (fastq files), intermediate files (sam, bam files), to the final one (vcf file) ready for analysis.
However, because he was involved in ADES consortia, he needed a bioinformatician and biostatician to process all this data - here is where Fundació ACE comes involved, with Dr. Agustin Ruiz as analyst expert, Dr. Oscar Sotolongo as IT consultant, and Dr. Victoria Fernández as bioinformatic-biostatician-TOBE.
This WIKI hence intends to explain three things:
- what are exomes and what are they useful for?
- how to bioinformatically process files containing exomes sequencing information
- the statistic analysis to perform according to diferent objectives