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Marcelo Kauffman - Neurogenetics
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Marcelo Kauffman

Hospital Ramos Mejía • Buenos Aires • Argentina

Skills and expertise

Fields of interest
  • WGS analysis
  • WES analysis
  • aCGH data analysis
  • Spanish
Programming languages
  • Python





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Provides a platform for the diagnostic of rare genetic diseases. GenIO uses patient’s genetic makeup and clinical information to enable diagnoses confirmation. The selected variants to obtain a…

Fields of interest

WGS analysis
Aligns population origins from non-cancer single nucleotide polymorphism (SNP)…
Provides a visualization engine module. genomeview was developed for both…
Assists for profiling circulating tumor DNA (ctDNA). NG-TAS features several…
WES analysis
Supplies a protein homology search method alternative to BLAST. TOPAZ is a…
Allows to rank, filter and explore cancer genomics data (genes, cell lines and…
Enables to build custom genome browsers. GIVe is a programming library allowing…
aCGH data analysis
Enables spatial mapping of RNA-seq transcript data onto high resolution tissue…
Finds cancer subtypes. Scluster is based on an adaptive sparse reduced-rank…
Analyzes next-generation sequencing (NGS) from experiments using unique…