Computational methods for genomic structural variants interpretation
2018/30/M/NZ2/00054
Keywords
Descriptors
- NZ2_8: Biologia obliczeniowa
- NZ2_7: Bioinformatyka
- NZ2_1: Genetyka molekularna
Panel
NZ2 – Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology
Host institution
Uniwersytet Warszawski, Wydział Matematyki, Informatyki i Mechaniki
Voivodeship: mazowieckie
Principal investigator (from the host institution)
Number of co-investigators in the project: 4
Call
HARMONIA 10 – announced on 2018-06-15
- Amount awarded
- 602 000 PLN
- Project start date
- 2019-04-12
- Project end date
- 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)
-
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 (year: 2022, volume: 50, pages: W744–W752), Publisher: Oxford Academic
- Status:
- Published
- DOI:
- 10.1093/nar/gkac318 – link to the publication
-
Revised time estimation of the ancestral human chromosome 2 fusion
- Authors:
- Poszewiecka, B., Gogolewski, K., Stankiewicz, P, Gambin A
- Academic press:
- BMC Genomics (year: 2022, volume: 23 (Suppl 6), 616, pages: 46037), Publisher: Springer Nature
- Status:
- Published
- DOI:
- 10.1186/s12864-022-08828-7 – link to the publication
-
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. (year: 2020, volume: 9(5), pages: 1245), Publisher: MDPI
- Status:
- Published
- DOI:
- 10.3390/jcm9051245 – link to the publication
-
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
- Status:
- Accepted for publication