Results 41 to 50 of about 425 (140)

Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing

Scientific Reports, 2021
Genomic rearrangements cause congenital disorders, cancer, and complex diseases in human. Yet, they are still understudied in rare diseases because their detection is challenging, despite the advent of whole genome sequencing (WGS) technologies.
Tatiana Maroilley, Xiao Li, Matthew Oldach, Francesca Jean, Susan J. Stasiuk, Maja Tarailo-Graovac   +5 more
doaj   +1 more source

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

Frontiers in Genetics, 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.
Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Anna Lindstrand, Anna Lindstrand, Claudia M. B. Carvalho, Claudia M. B. Carvalho   +16 more
doaj   +1 more source

Application of Optical Genome Mapping for the Diagnosis and Risk Stratification of Myeloid and Lymphoid Malignancies. [PDF]

Int J Mol Sci
Optical genome mapping (OGM) is a novel, high-resolution technology for genome-wide detection of structural variants, offering clear advantages over conventional cytogenetics in hematologic malignancies.
Ballesta-Alcaraz L, Bernal M, Vilchez JR, Palacios JA, Jiménez P, Garrido P, Gutiérrez-Bautista JF, Ruiz-Cabello F.   +7 more
europepmc   +2 more sources

Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements [PDF]

Nature Medicine, 2012
Next-generation sequencing of DNA from human tumors or individuals with developmental abnormalities has led to the discovery of a process we term chromoanagenesis, in which large numbers of complex rearrangements occur at one or a few chromosomal loci in a single catastrophic event.
Andrew J, Holland, Don W, Cleveland
openaire   +2 more sources

Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis

Molecular Cytogenetics, 2019
Background Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastrophic cellular events.
Mary A. Gudipati, Elizabeth Waters, Carol Greene, Nidhi Goel, Nicole L. Hoppman, Beth A. Pitel, Matthew R. Webley, Ying Zou   +7 more
doaj   +1 more source

Proposed model illustrating the steps leading to chromoanagenesis following pollen irradiation.

, 2021
Gamma irradiation of binucleate pollen induces double stranded DNA breaks in the generative cell, and results in chromosome lagging or in bridge formation [12] during the second pollen mitosis. The lagging chromosome is excluded from the main nucleus and
Weier Guo (5625989), Luca Comai (13000), Isabelle M. Henry (8463387)   +2 more
core   +1 more source

Chromoanasynthesis is a common mechanism that leads to ERBB2 amplifications in a cohort of early stage HER2+ breast cancer samples

BMC Cancer, 2018
Background HER2 positive (HER2+) breast cancers involve chromosomal structural alterations that act as oncogenic driver events. Methods We interrogated the genomic structure of 18 clinically-defined HER2+ breast tumors through integrated analysis of ...
George Vasmatzis, Xue Wang, James B. Smadbeck, Stephen J. Murphy, Katherine B. Geiersbach, Sarah H. Johnson, Athanasios G. Gaitatzes, Yan W. Asmann, Farhad Kosari, Mitesh J. Borad, Daniel J. Serie, Sarah A. McLaughlin, Jennifer M. Kachergus, Brian M. Necela, E. Aubrey Thompson   +14 more
doaj   +1 more source

P375: Case study: Germline chromoanagenesis associated with global developmental delay, dysmorphic features and failure to thrive

Genetics in Medicine Open
Priya Bhola, Aren Marshall, Melanie Beaulieu Bergeron, Kym Boycott, Jean McGowan-Jordan   +4 more
doaj   +2 more sources

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier

, 2021
Chromoanagenesis is a genomic event responsible for the formation of complex structural chromosomal rearrangements (CCRs). Germline chromoanagenesis is rare and the majority of reported cases are associated with an affected phenotype.
Eisfeldt, Jesper,, Nilsson, Daniel,, Nilsson, Daniel, Pettersson, Maria,, Petri, Anna, Eisfeldt, Jesper, Feuk, Lars, Pettersson, Maria, Lindstrand, Anna,, Feuk, Lars,, Lindstrand, Anna, Petri, Anna,   +11 more
core   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, Volume 208, Issue 4, Page 1232-1239, April 2026.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source