Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defects

Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defects

Abstract Background Homozygosity mapping is an efficient gene mapping method applicable to recessive disorders. It can detect homozygous segments of identical haplotype structures shared at a higher frequency among ventricular septal defect (VSD) and tetralogy of Fallot (TOF) cases. This study aims...

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Bibliographic Details
Main Authors: Rahim Gholipoorfeshkecheh, Swati Agarwala, Kavya G, Santhosh Krishnappa, Mysore R. Savitha, Nallur B. Ramachandra
Format: Article
Language:English
Published: SpringerOpen 2020-10-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Homozygous regions
Mitogen-Activated Protein Kinase 3
Nuclear Corepressor
Ventricular septal defect
Whole-exome sequencing
In silico validation
Online Access:http://link.springer.com/article/10.1186/s43042-020-00101-4

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http://link.springer.com/article/10.1186/s43042-020-00101-4

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