Results 61 to 70 of about 425 (140)

Poster Sessions

open access: yes
HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +2 more sources

A framework for the clinical implementation of optical genome mapping in hematologic malignancies

open access: yesAmerican Journal of Hematology, Volume 99, Issue 4, Page 642-661, April 2024.
Abstract Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic technology both for research and clinical purposes. In the last 2 years alone, multiple studies have demonstrated that OGM not only matches the diagnostic scope of conventional standard of care cytogenomic clinical testing but it also adds significant new information ...
Brynn Levy   +17 more
wiley   +1 more source

Data_Sheet_1_Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome.pdf

open access: yes, 2021
Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes.
Jesper Eisfeldt (5007209)   +9 more
core   +1 more source

Simulating chromoanagenesis for tool development and testing

open access: yes
The human genome is large and complex. Variations in the genome of an organism can have drastic health implications from cancer to constitutional disease.
Jenkins, Kyle Leu
core   +1 more source

A sequence context-based approach for classifying tumor structural variants without paired normal samples

open access: yesCell Reports: Methods
Summary: Although several recent studies have characterized structural variants (SVs) in germline and cancer genomes independently, the genomic contexts of these SVs have not been comprehensively compared. We examined similarities and differences between
Wolu Chukwu   +11 more
doaj   +1 more source

Table_1_Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome.pdf

open access: yes, 2021
Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes.
Jesper Eisfeldt (5007209)   +9 more
core   +1 more source

Caractérisation fonctionnelle des remaniements de structure chromosomique chez des patients atteints de troubles du neurodéveloppement

open access: yes, 2021
Apparently balanced chromosomal rearrangements (ABCRs) which include translocations, insertions, inversions, and complex rearrangements are rare events.
Masson, Julie
core   +1 more source

Functional characterization of chromosomal rearrangements in patients with neurodevelopmental disorders

open access: yes, 2021
Les remaniements de structure chromosomique apparemment équilibrés (RCAE), qui comprennent les translocations, les insertions, les inversions et les remaniements complexes sont des évènements rares.
Masson, Julie
core  

Publication Only

open access: yes
HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Exploring Chromosomal Instability and Chromoanagenesis as Engines of Genomic Evolution

open access: yes
Advances in sequencing techniques have revealed extreme chromosomal diversity andunderscored the importance of chromoanagenesis in macroevolution, speciation, and the contextof cancer and tumor progression. Evolution is essential for adapting to the environment, preparingfor future pressures, ensuring survival, and generating diversity. Here we discuss
Valentine Comaills   +1 more
openaire   +1 more source

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