We are professional computer scientists, versatile and experienced enough to:
- Modify Open Source popular packages to raise some limitations, or to implement some missing features.
- Integrate as needed back-end technologies in Biofacet Engine at the source level, or using the BFQL API.
Such tightly-coupled implementation with Biofacet Engine kernel allows true scaling, without thinking of computational limits. - Develop complex pipelines by taking scientific input as as a mandatory driver and as end-goal, thus hides the IT underlying complexity to the end-users.
SNP calling
We have been providing clinical-grade variant callers for diagnostics to numerous US labs. and hospitals.
Parts of these solutions include:
- samtools C/C++ caller modifications, raising limitations in case of consecutive close gaps
- complete HGVS codification and comparisons of predicted versus known calls (public or proprietary)
- exhaustive annotation of locations (exons, splice-sites, genes, ...) using positional tracks (public or proprietary)
We have been providing clinical-grade variant callers for diagnostics to numerous US labs. and hospitals.
Parts of these solutions include:
- samtools C/C++ caller modifications, raising limitations in case of consecutive close gaps
- complete HGVS codification and comparisons of predicted versus known calls (public or proprietary)
- exhaustive annotation of locations (exons, splice-sites, genes, ...) using positional tracks (public or proprietary)
Small-RNAs
We have implemented an innovative method that accurately locates sequenced micro-RNAs in plant genomes.
The method uses proprietary mapping algorithms, and is able to characterise folding at the primary sequence level.
Since it applies for NGS data, this approach breaks with everything that exists.
From a raw dataset of 200M reads, known and unknown miRNA candidates show up in minutes.
(Patent pending)
We have implemented an innovative method that accurately locates sequenced micro-RNAs in plant genomes.
The method uses proprietary mapping algorithms, and is able to characterise folding at the primary sequence level.
Since it applies for NGS data, this approach breaks with everything that exists.
From a raw dataset of 200M reads, known and unknown miRNA candidates show up in minutes.
(Patent pending)
SV events
Thanks to Biofacet Engine 2 structured results, Structural Variations events can be easily detected and classified.
We have been devising Gene fusion pipelines from transcriptomic data in cancer.
Thanks to Biofacet Engine 2 structured results, Structural Variations events can be easily detected and classified.
We have been devising Gene fusion pipelines from transcriptomic data in cancer.