Papers of the week – GABRA1 and STXBP1 in Dravet, gene therapy & synonymous mutations in cancers

FASTA, FASTQ, SAM, BAM, BWA, GC, GATK, IGV. Phew. Day 2 at the EuroEPINOMICS bioinformatics workshop in Leuven. Usually my work starts after the initial NGS raw data quality control and mapping procedures. Today’s topics are supposed to improve my understanding of sequencing analysis and NGS data interpretation. While we are still struggling, other scientists have done their home work already. Here are some of the remarkable publications from this week.

Leuven

Biologists, physicians and computer scientist at the EuroEPINOMICS bioinformatics workshop 2014 in Leuven

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Program or be programmed – the EuroEPINOMICS bioinformatics workshop 2014

Join the genome hacking league.  We are preparing a EuroEPINOMICS bioinformatics workshop in Leuven and I really, really encourage you to join us, as there are handful of place left. This will be the workshop that I always wanted to attend, but never got a chance to take part in. And yes, there is a final exam, but there is a chance that you might pass it.  If you’re worried, skip ahead two paragraphs.

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