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Genetics

What’s wrong with these genotypes?

During a correspondence with a colleague about the validity of genotyping rare variants I became aware of a paper in Science that I missed initially. It is about genetic signatures in longevity:

Using these data, we built a genetic model that includes 150 single-nucleotide polymorphisms (SNPs) and found that it could predict EL with 77% accuracy in an independent set of centenarians and controls.

That’s an extremely difficult enterprise given our recent results of the heritability of life span. But that’s not the point, reading now the editorial expression of concern by Bruce Alberts.

In their study, Sebastiani et al. used a number of different genotyping platforms and neglected to perform data quality-control steps, which resulted in their reporting several false-positive single-nucleotide polymorphism (SNP) associations. In particular, one of the platforms used in their work, the Illumina 610-Quad array, has been shown in unpublished studies by other investigators to produce artifactual genotype data at a subset of SNPs.

No idea, what’s bad with the Illumina Continue reading What’s wrong with these genotypes? →

 

CC-BY-NC Science Surf , accessed 24.03.2026
Philosophy, Theology

Bridging science and religion

That’s something that I just read in the DHV newsletter 11/2010 – teaching science in the church :-)

Studierende der Universität Kassel lernen auch auf Kirchenbänken. 20.616 Studierende sind derzeit eingeschrieben. Das sind 1.000 mehr als zu Beginn des vergangenen Wintersemesters und damit mehr als je zuvor. Hörsäle, Mensen und Seminarräume platzen aus den Nähten. Die Hochschulleitung hat daher zusätzliche Räume im Stadtgebiet angemietet. Hierzu gehören ein Hörsaal im Klinikum, Räume in Schulen und zwei Kirchen.

 

CC-BY-NC Science Surf , accessed 24.03.2026
Noteworthy, Philosophy

Science success sucks (sometimes)

Leo at zenhabits has a great new piece:

Why I don’t care about success. ‘Try not to become a man of success, but rather try to become a man of value.’ (Albert Einstein)
A lot of people in my field write about how to be successful, but I try to avoid it. It’s just not something I believe is important. Now, that might seem weird: what kind of loser doesn’t want to be successful?
Me. I’m that loser. Continue reading Science success sucks (sometimes) →

 

CC-BY-NC Science Surf , accessed 24.03.2026
Genetics

Do we all have (compensated) monogenic traits?

I have made several attempts here to estimate the number of somatic mutations: 3,93 mutations / Mb(2007), the long fuse (2007), about the cancer the legacy (2010) or 1/day in the life of a mutation (2010) but the best summary now comes from the 1000 genomes

From the two trios, we directly estimate the rate of de novo germline base substitution mutations to be approximately 10^-8 per base pair per generation.

along with the fact that

on average, each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited disorders.

which raises some doubts that these 50 to 100 have only been implicated but not proven…

 

CC-BY-NC Science Surf , accessed 24.03.2026
Allergy, Genetics

Drop the last 3 nature genetics volumes from the libraries

This is not a joke – we can easily drop the last 3 or 4 nature genetics volumes for ignorance of basic facts. I have written here many times about the usefulness of current GWAs but missed the details of a Cell paper by McClellan & King that I am wholeheartedly supporting (although not all other science bloggers) Continue reading Drop the last 3 nature genetics volumes from the libraries →

 

CC-BY-NC Science Surf , accessed 24.03.2026
Genetics

Be so good as to explain all this in your next letter

The New Scientist started a new essay this week

In 1856, geologist Charles Lyell wrote to Charles Darwin with a question about fossils. Puzzled by types of mollusc that abruptly disappeared from the British fossil record, apparently in response to a glaciation, only to reappear 2 million years later completely unchanged, he asked of Darwin: “Be so good as to explain all this in your next letter.” Darwin never did.

While preparing my new lectures on evolutionary medicine, Continue reading Be so good as to explain all this in your next letter →

 

CC-BY-NC Science Surf , accessed 24.03.2026
Genetics, Philosophy

A crisis of purpose, focus and content

A Nature correspondence letter laments

Universities are experiencing a crisis of purpose, focus and content, rooted in a fundamental confusion about all three. The crisis is all the more visible as their pace of social, intellectual and technological change falls increasingly out of step with that outside. Furthermore, universities are largely reactive where they should be visionary and critical.

Of course, that’s right – how to study “biology”? What’s should be purpose, content and focus? Maybe that’s easier with “medicine” Continue reading A crisis of purpose, focus and content →

 

CC-BY-NC Science Surf , accessed 24.03.2026