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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Genome assembly algorithms for genetic disorders diagnosis

2019/33/N/ST6/03110

Keywords:

bayesian model de-Bruijn graph genomic rearrangements 3rd generation sequencing long-reads

Descriptors:

  • NZ2_007:
  • NZ2_008:
  • ST6_013:

Panel:

ST6 - Computer science and informatics: informatics and information systems, computer science, scientific computing, intelligent systems

Host institution :

Uniwersytet Warszawski, Wydział Matematyki, Informatyki i Mechaniki

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

Barbara Agnieszka Poszewiecka 

Number of co-investigators in the project: 2

Call: PRELUDIUM 17 - announced on 2019-03-15

Amount awarded: 128 800 PLN

Project start date (Y-m-d): 2020-03-05

Project end date (Y-m-d): 2023-06-04

Project duration:: 39 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 (8)
  1. Revised time estimation of the ancestral human chromosome 2 fusion
    Authors:
    Barbara Poszewiecka, Krzysztof Gogolewski, Paweł Stankiewicz, Anna Gambin
    Academic press:
    BMC Genomics (rok: 2022, tom: 23, strony: 45673), Wydawca: BMC Genomics
    Status:
    Published
    DOI:
    10.1186/s12864-022-08828-7 - link to the publication
  2. From 48 to 46 chromosomes: a novel targeted assembler of segmental duplications unravels the complexity of the HSA2 fusion
    Authors:
    Barbara Poszewiecka, Krzysztof Gogolewski, Justyna A. Karolak, Paweł Stankiewicz, Anna Gambin
    Academic press:
    Genome Biology (rok: 2023, tom: nie dotyczy, strony: nie dotyczy), Wydawca: BioMed Central
    Status:
    Submitted
  3. TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure
    Authors:
    Barbara Poszewiecka, Victor Murcia Pienkowski, Karol Nowosad, Jérôme D Robin, Krzysztof Gogolewski, Anna Gambin
    Academic press:
    Nucleic Acids Research (rok: 2022, tom: 50, strony: W744–W752), Wydawca: Oxford University Press
    Status:
    Published
    DOI:
    10.1093/nar/gkac318 - link to the publication
  4. Revised time estimation of the ancestral human chromosome 2 fusion
    Authors:
    Barbara Poszewiecka, Krzysztof Gogolewski, Paweł Stankiewicz, Anna Gambin
    Academic press:
    BMC Genomics
    Status:
    Submitted
  5. Revised time estimation of the ancestral human chromosome 2 fusion
    Authors:
    Barbara Poszewiecka, Krzysztof Gogolewski, Paweł Stankiewicz, Anna Gambin
    Academic press:
    BMC Genomics
    Status:
    Submitted
  6. PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution
    Authors:
    Poszewiecka, B., Gogolewski, K., Karolak, J., Stankiewicz, P, Gambin A
    Academic press:
    Genome Biology (rok: 2023, tom: nie dotyczy, strony: nie dotyczy), Wydawca: Springer Nature
    Status:
    Accepted for publication
  7. TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure
    Authors:
    Barbara Poszewiecka, Victor Murcia Pienkowski, Karol Nowosad, Jérôme D Robin, Krzysztof Gogolewski, Anna Gambin
    Academic press:
    Nucleic Acids Research (rok: 2022, tom: 50, strony: W744–W752), Wydawca: Oxford University Press
    Status:
    Published
    DOI:
    10.1093/nar/gkac318 - link to the publication
  8. Revised time estimation of the ancestral human chromosome 2 fusion
    Authors:
    Barbara Poszewiecka, Krzysztof Gogolewski, Paweł Stankiewicz, Anna Gambin
    Academic press:
    BMC Genomics (rok: 2022, tom: 23, strony: 45673), Wydawca: BMC Genomics
    Status:
    Published
    DOI:
    10.1186/s12864-022-08828-7 - link to the publication

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