Skip to content
Archive of entries posted on August 2013

Bad news everyone: GeneTalk needs funding

In 2011 and 2012, GeneTalk was sponsored by SmartAlgos IT Consulting. In 2013, we got a grand (“Exist”) from the german ministry of science and technology. Starting from 2014, we no longer have any funding. We still need our full-time software developers (Peggy and Tom) to implement all the new features we planned for GeneTalk, improve [...]

Where have all the annotations gone?

Where have all the annotations gone? Long time passing. Where have all the annotations gone? Long time ago. Where have all the annotations gone? The stars show ratings now! When do they ever learn? When do they ever learn? I hope, the last line does apply to us and our attempts to make GeneTalk more [...]

Estimating Exome Genotyping Accuracy by Comparing to Data from Large Scale Sequencing Projects

A new paper was published in Genome Medicine about how genotyping accuracy is estimated by comparing variant data with data from large scale sequencing projects such as the 1000 Genomes Project. Quality metrics are now availible at GeneTalk for all uploaded VCF files. V.  Heinrich developed a metrics algorithm that compares variant data of the [...]

New publication out: Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

Kamphans et al. published an artile about on which basis the filter for compound heterozygous sequece variants works in GeneTalk. The identification of disease-causing mutations in next-generation sequencing (NGS) data requires efficient filtering techniques. In patients with rare recessive diseases, compound heterozygosity of pathogenic mutations is the most likely inheritance model if the parents are [...]