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Archive of posts filed under the Publications category.

Non-coding variant interpretation using GeneTalk

Variants in noncoding regions are always difficult to interpret on a genomic level . In a recently published article in Human Mutation entitled “Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of HPMRS“ we present an approach for filtering pathogenic nonconding variants and explain how to interpret the implications of the variants [...]

Analyzing Family Exome Data …

When you ask two laywers for their opinion you might get three different answers. In genetics it could get even worse: Corpas et al. analyzed four publicly available exomes of a family with different software tools. Surprisingly there was only little overlap in the sequence variants that were assessed as clinically relevant. We would like [...]

39 novel pathogenic mutations for Usher Syndrome

It took us quite a while, but finally we got our paper accepted. That means 39 variants of unknown clinical significance can now be regarded as disease causing. You will find all annotations in GeneTalk, as well as in CinVar in one of the next releases.


GeneTalk’s Personal Exome Project was covered in the Laborjournal: We were amazed by the interest and all the new applicants for our exome project. As its a crowd funded project, we hope that also some philanthropists will hit the donate button!

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 [...]