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projects

Bioinformatic analysis of human genome sequencing for clinical diagnosis

We performed a bioinformatic analysis on the genomes of three patients suffering a neurological disease with the goal to approach clinical diagnosis from a genomic point of view.
The clinical analysis was conducted jointly with Marcelo Kauffman’s team, Neurogenetics Laboratory, Hospital J. M. Ramos Mejía, while the samples were sequenced on an Illumina HiSeq 1500 sequencer located on INDEAR, Rosario, Argentina.
We designed a framework that includes stages of sample preprocessing, variant search and integrative analysis of the variants with statistical and clinical information.
As a result we found a small subset of candidate genes matching the medical evidences, which then were clinically analyzed to confirm the findings.

Druggable target search over Meloidogyne Incognita

A genomic analysis was performed over the sequencing data of Meloidogyne Incognita with the objective of determining the presence of druggable targets on this organism. This analysis was made under the same conditions than those used over the organism Mycobacterium Tuberculosis and published on TuberQ.
This proyect was performed for Dr. Simonetta, Fundación Instituto Leloir.

Bioinformatic analysis of human exome sequencing for clinical diagnosis

We performed a bioinformatic analysis on 10 exomes of patients with diverse neurological diseases treated by Marcelo Kauffman’s team, Neurogenetics Laboratory, Hospital J. M. Ramos Mejía.
We designed a framework that includes stages of sample preprocessing, variant search and integrative analysis of the variantes with statistical and clinical information. The clinical analysis was conducted jointly with the mentioned team.
For each case we found candidate genes matching the medical evidences.

ProteinQ

ProteinQ is a web-based solution to link biological data from several databases. This database functions both as a website where researchers can look for information on targets of interest, and as a tool for priorization of targets in whole genomes.

Related publication
ProteinQ