Optical Genome Mapping Reveals the Complex Genetic Landscape of Myeloma

A Giguère, I Raymond-Bouchard, V Collin, JS Claveau… - Cancers, 2023 - mdpi.com
Simple Summary Myeloma is a hematological cancer characterized by numerous genetic
abnormalities currently identified using fluorescent in situ hybridization (FISH). However …

Analytic Validation of Optical Genome Mapping in Hematological Malignancies

AWC Pang, K Kosco, NS Sahajpal, A Sridhar… - Biomedicines, 2023 - mdpi.com
Structural variations (SVs) play a key role in the pathogenicity of hematological
malignancies. Standard-of-care (SOC) methods such as karyotyping and fluorescence in …

Genomic technologies for detecting structural variations in hematologic malignancies

M Jang - Blood Research, 2024 - Springer
Genomic structural variations in myeloid, lymphoid, and plasma cell neoplasms can provide
key diagnostic, prognostic, and therapeutic information while elucidating the underlying …

Optical Genome Mapping as a Tool to Unveil New Molecular Findings in Hematological Patients with Complex Chromosomal Rearrangements

N Coccaro, A Zagaria, L Anelli, F Tarantini, G Tota… - Genes, 2023 - mdpi.com
Standard cytogenetic techniques (chromosomal banding analysis—CBA, and fluorescence
in situ hybridization—FISH) show limits in characterizing complex chromosomal …

[PDF][PDF] Optical Genome Mapping Reveals the Complex Genetic Landscape of Myeloma. Cancers 2023, 15, 4687

A Giguère, I Raymond-Bouchard, V Collin, JS Claveau… - 2023 - pdfs.semanticscholar.org
Fluorescence in situ hybridization (FISH) on enriched CD138 plasma cells is the standard
method for identification of clinically relevant genetic abnormalities in multiple myeloma …

Optical Genome Mapping for Cryptic Chromosomal Rearrangements Identification in Clinical Practice

C Zhou, H Duan, L He, H Li, Y Shi, J Li - Maternal-Fetal Medicine, 2024 - mednexus.org
Study design, Zhou Chunxiang and Duan Honglei; Experimental operation, Zhou
Chunxiang, He Linlin, Li Huijun and Shi Yiyan; Data analysis, Zhou Chunxiang; Writing …

Exploration de familles non-résolues avec déficience intellectuelle présumée liée à l'X à l'ère du Whole Genome Sequencing

SD El Chehadeh - 2023 - theses.hal.science
La déficience intellectuelle (DI) concerne 2% de la population et représente la première
cause de consultation dans les centres de génétique pédiatriques. Plus de la moitié des …

The Groundbreaking Validation of Whole Genome Sequencing (WGS) for a Comprehensive Genetic Profiling of Childhood B-cell ALL.

J Garcia-Heras - Journal of the Association of Genetic …, 2023 - search.ebscohost.com
A new study demonstrated the power of WGS to comprehensively and accurately profile the
genetic abnormalities in cases of childhood B-ALL that were previously studied with …

Hematolojik Neoplazilerin Karmaşık Genetik Yapısını Aydınlatmada Yeni Nesil Bir Sitogenetik Yaklaşım: Optik Genom Haritalama

AGB Tokaç - Osmangazi Tıp Dergisi - dergipark.org.tr
Hematolojik neoplazilerin tanısında ve tedavi yaklaşımlarının belirlenmesinde genetik
anomalilerin rolü, konvansiyonel sitogenetik yöntemlerin gelişmesiyle birlikte paralel giden …