Wow!! What a packed week (31Oct - 4Nov) this has been for both Matthias and I.  We were privileged to attend the Identifying Genes for Mendelian Traits using Next Generation Sequence Data held at the MDC in Berlin and taught by Prof. Susan Leal, from Baylor College of Medicine in Houston Texas, and Prof. Michael Nothnagel from the University of Cologne.

This intensive course focused on rare variants (Mendelian Traits) covering a host of sub-topics that started with Linkage Analysis and neatly ending with NGS data.

What was of particular interest to us were the practical computer exercises that covered a range of freeware computer programs available for each type of analysis [please click on the hyperlink to see a list of programs we worked with their functions and for a breakdown figure of LINKAGE/FASTLINK computer package]. Also, it was interesting to learn that the recommended a LOD score of 3.3 (rather than the conventionally used 3.0) was now used as the significant level as mentioned in Lander, E. & Kruglyak, L.  (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247.

Even Gregory Mendel's garden pea experiment made an appearance😉

On a non-academic tone, on Wednesday afternoon all course participants were given off to go explore Berlin a little which was fun!

We visited Berlin’s Natural museum which was additional complemented by two temporary exhibitions: ‘Tristan’ the Tyrannosaurus Rex (is the only original skeleton of a T.rex on display in Europe to date) and The Rosetta Mission (based on the small probe Philae which landed at the end of 2014).  Additionally, we visited the Computerspielemuseum and the Topology of Terror Museum which gives a chronological overview of the institutions of Nazi terror during the NS regime in Germany.

A few tips for any future interested course attendees are:

a.   Because a week is a short amount of time to cover in detailed some complex concepts we would recommend refreshing yourself with some concepts and calculations prior to the course (such as linkage analysis, recombination fraction, parametric linkage, penetrance, two-/multi-point linkage analysis, homozygosity mapping, etc).

b.   If, as a future attendee, you would prefer to stay in Berlin’s CBD we found that the ibis Budget hotel at Potsdamers Platz to be conveniently located (and priced) in the heart of town and accessible to all public transport.

MM, LMV