A novel compound heterozygous mutation in DNAH9 causes complex congenital heart disease

Description

We have provided the original data generated from whole-exome sequencing of fetal tissue from a miscarriage associated with congenital heart disease.

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The genomic DNA of the proband (male) was extracted from aborted tissue according to the kit instructions (MagPure Buffy Coat DNA Midi KF Kit, MAGEN Biotechnology Co., Ltd.). WES was conducted using the MGISEQ-2000 sequencing platform (BGI Genomics Co., Ltd.), employing a PE100+10 sequencing strategy. Raw sequencing data were obtained upon completion of the sequencing process. The quality of raw sequencing data was assessed using SOAPnuke software. The clean reads were aligned to the hg19 reference genome using Burrows Wheeler Aligner software). Single nucleotide variants and insertions and deletions were identified using GATK software, generating results for base polymorphisms in the target region. Subsequently, multiple databases, including ESP6500 v2, the 1000Genomes Project, The Genome Aggregation Database (gnomAD) and a database of 100 healthy Chinese adults - were utilized to identify potential mutations. The BGI-varanno self-developed algorithm was employed for screening and annotation. Disease data from Clin-Var (https://www.ncbi.nlm.nih.gov/clinvar/), Online Mendelian Inheritance in Man (https://www.omim.org/), and the Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/) were integrated. Variant filtering was performed according to our previous study and the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology guidelines for mutation pathogenicity was referenced for interpretation.

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