Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization-Reference-Cited by-同舟云学术

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Published:2020-01-27 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Uguen Kévin¹²^ORCID,Jubin Claire³⁴,Duffourd Yannis⁵,Bardel Claire⁶⁷,Malan Valérie⁸,Dupont Jean‐Michel⁹,El Khattabi Laila⁹,Chatron Nicolas²^ORCID,Vitobello Antonio⁵¹⁰,Rollat‐Farnier Pierre‐Antoine⁶,Baulard Céline³⁴,Lelorch Marc⁸,Leduc Aurélie³⁴,Tisserant Emilie⁵,Tran Mau‐Them Frédéric⁵¹⁰,Danjean Vincent¹¹,Delepine Marc³⁴,Till Marianne²,Meyer Vincent³⁴,Lyonnet Stanislas¹²,Mosca‐Boidron Anne‐laure⁵¹³,Thevenon Julien¹⁴,Faivre Laurence⁵¹⁵^ORCID,Thauvin‐Robinet Christel⁵¹⁵,Schluth‐Bolard Caroline²,Boland Anne³⁴,Olaso Robert³⁴,Callier Patrick⁵¹³,Romana Serge⁸,Deleuze Jean‐François³⁴,Sanlaville Damien²

Affiliation:

1. Service de Génétique Médicale CHRU de Brest Brest France

2. HCL, Service de Génétique BRON Cedex France

3. Centre National de Recherche en Génomique Humaine (CNRGH) CEA Evry France

4. Labex GenMed Evry France

5. UMR1231 GAD Inserm ‐ Université Bourgogne‐Franche Comté Dijon France

6. HCLCellule bioinformatique de la plateforme NGS du CHU Lyon BRON Cedex France

7. Université Lyon 1CNRSLaboratoire de Biométrie et Biologie Evolutive UMR5558Villeurbanne France

8. Service de Cytogénétique Hôpital Necker‐Enfants MaladesAPHP Paris France

9. Institut CochinINSERM U1016Université Paris DescartesFaculté de Médecine APHPHUPC, site CochinLaboratoire de CytogénétiqueParis France

10. Unité Fonctionnelle d'Innovation en Diagnostic Génomique des Maladies RaresFHU‐TRANSLADCHU Dijon Bourgogne Dijon France

11. Univ. Grenoble AlpesCNRSGrenoble INPLIGGrenoble France

12. Fédération de Génétique et Institut Imagine UMR‐1163 Université de ParisHôpital Necker‐Enfants MaladesAPHP Paris France

13. Laboratoire de génétique chromosomique et moléculaire FHU‐TRANSLADCHU Dijon Bourgogne Dijon France

14. Centre de génétique Hôpital Couple‐EnfantCHU Grenoble Alpes La Tronche, Grenoble France

15. Centre de génétique FHU‐TRANSLADCHU Dijon Bourgogne Dijon France

Funder

Fondation Maladies Rares

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1114

Reference38 articles.

1. CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

2. Resolving the complexity of the human genome using single-molecule sequencing

3. BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

4. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

5. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

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