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ABELLEYRO, MIGUEL MARTIN

INVESTIGADOR ASISTENTE

SPECIALITY:

Genetica Molecular

Scientific discipline:

Ciencias Médicas - Ciencias Médicas

Topic:

Caracterización genómica masiva de variantes estructurales del cromosoma X en humanos. Análisis de la relación genotipo/fenotipo en pacientes con hemofilia A e individuos de la población general. . Massive genomic characterization of structural variants of the X chromosome in humans. Analysis of the genotype/phenotype relationship in patients with hemophilia A and individuals from the general population.

Workplace

INSTITUTO DE MEDICINA EXPERIMENTAL (IMEX, CONICET-ANM) Depends on
Address:
PACHECO DE MELO 3081, piso 1, C1425AUM - Capital Federal - Argentina

Contact:

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S&T Expertise*

My work involves the molecular study of human Structural Variants originated by homologous recombination involving repetitive sequences (LINEs, SINEs, low copy number repeats, etc.) or non homologous recombination. I use different techniques, LD-PCR, standard PCR, IS-PCR, agarose and polyacrylamide gels, CSGE, Sanger sequencing and Massively Parallel Sequencing, RFLP, Southern blots, Salting out and I employ different free available bioinformatics tools based on linux (Debian 9), to perform massive DNA-alignments, identification of inverted and directed repeats, repeat masking, genome browsers and databases managing, in silico simulation of rearrangements and detecting approaches. *Information provided by the agent in SIGEVA

Lines of Investigation

Genética Molecular de la Hemofilia CIENCIAS MÉDICAS Y DE LA SALUD - Medicina Básica - Genética Humana

Technological Capacities

  • 6. Ciencias biológicas
    • 1. Medicina, Salud humana
      • 1.5. Diagnósticos, diagnosis
    • 2. Biología / Biotecnología
      • 2.2. Biología celular y molecular

Key Words

Rearreglos GenómicosGenéticaVariantes EstructuralesHemofiliaGenomic RearrangementsHaemophiliaGeneticsStructural Variants

Education

2011 - 2016

Doctor de la Universidad Nacional de Quilmes con mención en Ciencias Básicas Aplicadas

UNIVERSIDAD NACIONAL DE QUILMES

2006 - 2010

Licenciado en Biotenologia con orientación en genética molecular

UNIVERSIDAD NACIONAL DE QUILMES


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DE BRASI, CARLOS DANIEL
Scientific Research Career at CONICET

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