A full molecular picture of F8 intron 1 inversion created with optical genome mapping-Reference-Cited by-同舟云学术

A full molecular picture of F8 intron 1 inversion created with optical genome mapping

Published:2021-07-07 Issue:5 Volume:27 Page:
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Fahiminiya Somayyeh¹²^ORCID,Rivard Georges‐Etienne¹³^ORCID,Scott Patrick¹,Montpetit Alexandre⁴,Bacot François⁴,St‐Louis Jean³^ORCID,Mitchell Grant A.¹²,Foulkes William D.⁵,Soucy Jean‐Francois¹²,Gauthier Julie¹²

Affiliation:

1. Molecular Diagnostic Laboratory CHU Sainte‐Justine Montreal Québec Canada

2. Division of Medical Genetics Department of Pediatrics CHU Sainte‐Justine and Université de Montréal Montreal Québec Canada

3. Division of Hematology‐Oncology Department of Pediatrics CHU Sainte‐Justine and Université de Montréal Montreal Québec Canada

4. Centre d'expertise et de services Génome Québec Montreal Québec Canada

5. Department of Human Genetics McGill University Montreal Québec Canada

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.14375

Reference10 articles.

1. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A

2. Identification and characterisation of a novel aberrant pattern of intron 1 inversion with concomitant large insertion and deletion within the F8 gene

3. Limitations of next-generation genome sequence assembly

4. Next generation cytogenetics: genome‐imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples;Tuomo Mantere KN;bioRxiv,2020

5. Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly

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1. Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis;Clinical Chemistry;2024-03-22

2. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions;The American Journal of Human Genetics;2023-08

3. Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping;Haemophilia;2023-03-10

4. Correction of F8 intron 1 inversion in hemophilia A patient-specific iPSCs by CRISPR/Cas9 mediated gene editing;Frontiers in Genetics;2023-03-09