Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

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Computational methods for genomic structural variants interpretation

2018/30/M/NZ2/00054

Keywords:

genomic structural variants CNV TAD long reads de-novo assembly

Descriptors:

  • NZ2_8: Computational biology
  • NZ2_7: Bioinformatics
  • NZ2_1: Molecular genetics

Panel:

NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

Host institution :

Uniwersytet Warszawski, Wydział Matematyki, Informatyki i Mechaniki

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Anna Gambin 

Number of co-investigators in the project: 4

Call: HARMONIA 10 - announced on 2018-06-15

Amount awarded: 602 000 PLN

Project start date (Y-m-d): 2019-04-12

Project end date (Y-m-d): 2023-04-11

Project duration:: 48 months (the same as in the proposal)

Project status: Project settled

Project description

Download the project description in a pdf file

Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.

Information in the final report

  • Publication in academic press/journals (4)
  1. Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype
    Authors:
    Murcia Pienkowski V, Kucharczyk M, Rydzanicz M, Poszewiecka B, Pachota K, Młynek M, Stawiński P, Pollak A, Kosińska J, Wojciechowska K, Lejman M, Cieślikowska A, Wicher D, Stembalska A, Matuszewska K, Materna-Kiryluk A, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R.
    Academic press:
    J Clin Med. (rok: 2020, tom: 9(5), strony: 1245), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/jcm9051245 - link to the publication
  2. TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure
    Authors:
    Poszewiecka, B., Pienkowski, V.M., Nowosad, K., Robin, J.D., Gogolewski, K. and Gambin, A.
    Academic press:
    Nucleic Acids Research (rok: 2022, tom: 50, strony: W744–W752), Wydawca: Oxford Academic
    Status:
    Published
    DOI:
    10.1093/nar/gkac318 - link to the publication
  3. From 48 to 46 chromosomes: a novel targeted assembler of segmental duplications unravels the complexity of the HSA2 fusion
    Authors:
    Poszewiecka, B., Gogolewski, K., Karolak, J., Stankiewicz, P, Gambin A
    Academic press:
    Genome Biology , Wydawca: Springer Nature
    Status:
    Accepted for publication
    DOI:
    brak - link to the publication
  4. Revised time estimation of the ancestral human chromosome 2 fusion
    Authors:
    Poszewiecka, B., Gogolewski, K., Stankiewicz, P, Gambin A
    Academic press:
    BMC Genomics (rok: 2022, tom: 23 (Suppl 6), 616, strony: 45306), Wydawca: Springer Nature
    Status:
    Published
    DOI:
    10.1186/s12864-022-08828-7 - link to the publication

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