Keywords: NGS, Human, Bioinformatics Internship Duration: 01/05/21 - 01/08/21
Head of the hosting team: Tibor Kalmar
Website: Click here
Address of the host laboratory: Department of Pediatrics Team Genetic Diagnostic Laboratory Albert Szent-Gyorgyi Medical Center, University of Szeged, Temesvari krt. 35-37 6726 Szeged Hungary
Supervisor 1: Tibor KalmarE-mail: kalmar.tibor@med.u-szeged.hu Phone: +3662341713
Supervisor 2: Zoltan MarotiE-mail: zmaroti@gmail.comPhone: +3662341713
As genetic diagnostic lab we are interested to identify the underlying genetic alterations in cases of rare genetic disease patients. We are constantly developing and improving bioinformatics pipelines in order to analyse next generation sequencing information and to identify pathological alterations in patients. Our current focus is to improve the detection of challenging genetic alterations such as large deletions and copy number variations using NGS raw data. As part of the Paediatric Department many of our patient has congenital condition but we are also involved in the diagnostic/and research/of late onset (mostly neurological) patients. We are welcome PhD student with her/his own agenda of this field, happy to take on unsolved cases of her/his own or we can work together on combined cases. We are really open for any suggestion.
NGS-based sequencing technology and bioinformatical analyses of rare human diseases
- Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family. Orphanet J Rare Dis 16, 45 (2021). https://doi.org/10.1186/s13023-021-01673-z - Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series. NEUROLOGICAL SCIENCES 41 : 1 pp. 125-129. , 5 p. (2020) - Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis BMC GENOMICS 19 : 1 Paper: 778 , 13 p. (2018)
