Nouvelles technologies permettant de détecter les CNVs

Actuellement, de nouvelles technologies sont développées afin de mettre en évidence les CNVs. Certaines de ces techniques permettent également la détection des remaniements chromosomiques équilibrés.

AGILENT

GenetiSure-Cyto-CGH-Microarrays

GenetiSure Cyto CGH Microarrays

Consulter / télécharger PDF

BIONANO

Mapping-and-characterization-of-structural-variation-in-17795-human-genomes

Optical genome mapping enables constitutional chromosomal aberration detection. Haley J. Abel, David E. Larson, Allison A. Regier, Colby Chiang, Indraniel Das, Krishna L. Kanchi, Ryan M. Layer, Benjamin M. Neale, William J. Salerno, Catherine Reeves, Steven Buyske, NHGRI Centers for Common Disease Genomics, Tara C. Matise, Donna M. Muzny, Michael C. Zody, Eric S. Lander, Susan K. Dutcher, Nathan O. Stitziel, Ira M. Hall. Am J Hum Genet. 2021 Aug 5;108(8):1409-1422.

Consulter / télécharger PDF

Application-of-full-genome-analysis-to-diagnose-rare-monogenic-disorders

Application of full-genome analysis to diagnose rare monogenic disorders. Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok & Dario Boffelli. NPJ Genom Med. 2021 Sep 23;6(1):77..

Consulter / télécharger PDF

Marfan-Syndrome-Caused-by-Disruption-of-the-FBN1-Gene-due-to-A-Reciprocal-Chromosome-Translocation

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation. Anna Clara Schnause, Katalin Komlosi, Barbara Herr, Jürgen Neesen, Paul Dremsek, Thomas Schwarz, Andreas Tzschach, Sabine Jägle, Ekkehart Lausch, Judith Fischer, Birgitta Gläser . Genes (Basel). 2021 Nov 21;12(11):1836.

Consulter / télécharger PDF

A full molecular picture of F8 intron 1 inversion created with optical genome mapping. Somayyeh Fahiminiya, Georges-Etienne Rivard, Patrick Scott, Alexandre Montpetit, François Bacot, Jean St-Louis, Grant A. Mitchell, William D. Foulkes, Jean-Francois Soucy, Julie Gauthier. Haemophilia. 2021 Sep;27(5):e638-e640.

Consulter / télécharger PDF

Optical-genome-mapping-identifies-a-germline-retrotransposoninsertion-in-SMARCB1-in-two-siblings-with-atypical-teratoidrhabdoid-tumors

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors. Mariangela Sabatella, Tuomo Mantere, Esmé Waanders, Kornelia Neveling, Arjen R Mensenkamp, Freerk van Dijk, Jayne Y Hehir-Kwa, Ronnie Derks, Michael Kwint, Luke O'Gorman, Madalena Tropa Martins, Corrie EM Gidding, Maarten H Lequin, Benno Küsters, Pieter Wesseling, Marcel Nelen, Jacklyn A Biegel, Alexander Hoischen, Marjolijn C Jongmans, Roland P Kuiper. J Pathol. 2021 Oct;255(2):202-21.1

Consulter / télécharger PDF

Thermo Fisher Scientific

Portfolio_ACPA_ThermoFisherScientific

Portfolio Thermo Fisher Scientific

Consulter / télécharger PDF

Comparaison-APCA_NGS

Comparaison NGS

Consulter / télécharger PDF

CytoScan-HD-Accel-Speed-Comparison

CytoScan HD Accel Speed Comparaison

Consulter / télécharger PDF

PACBIO

Séquençage haut débit

Illumina

Séquençage haut débit

Introducing-constellation-mapped-read-technology

Introducing constellation mapped read technology

infinium-gda-cytogenetics-darbro-article-m-gl-00954

Exploring variants of unknown significance with cytogenetic microarrays

infinium-gdacyto-8-v1.0-data-sheet-m-gl-00727

Infinium™ Global Diversity Array with Cytogenetics-8 v1.0 BeadChip