Projects funded by the NCN
The search for post-zygotic mutations in patients with limb-girdle muscular dystrophy using next generation sequencing.
2015/19/N/NZ2/02915
Keywords:
Descriptors:
- NZ2_2: Genomics, transcriptomics, epigenomics
- NZ2_7: Bioinformatics
- NZ2_1: Molecular genetics
Panel:
NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology
Host institution :
Instytut Medycyny Doświadczalnej i Klinicznej im. Mirosława Mossakowskiego Polskiej Akademii Nauk
woj. mazowieckie
Principal investigator (from the host institution):
Number of co-investigators in the project: 3
Call: PRELUDIUM 10 - announced on 2015-09-15
Amount awarded: 100 000 PLN
Project start date (Y-m-d): 2016-10-11
Project end date (Y-m-d): 2018-10-10
Project duration:: 24 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 (2)
- Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy PatientsAuthors:Macias A, Fichna JP, Topolewska M, Rȩdowicz MJ, Kaminska AM, Kostera-Pruszczyk AAcademic press:Frontiers in Neuroscience (rok: 2021, tom: 15, strony: 692482 (eCollection)), Wydawca: FrontiersStatus:PublishedDOI:10.3389/fnins.2021.692482 - link to the publication
- Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patientsAuthors:Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski CAcademic press:Human Genomics (rok: 2018, tom: 12, strony: 34), Wydawca: Biomed CentralStatus:PublishedDOI:10.1186/s40246-018-0167-1 - link to the publication