Computational protocol: CSB-PGBD3 Mutations Cause Premature Ovarian Failure

Similar protocols

Protocol publication

[…] Genomic DNA was extracted from peripheral blood leukocytes using DNeasy Blood & Tissue Kit (Qiagen), exome sequences were captured with SureSelect Target Enrichment System for Illumina Paired-End Sequencing Library (Agilent Technologies), and DNA sequencing was performed on the Illumina platform (Illumina HiSeq). Reads were mapped to the hg19 reference genome with Burrows-Wheeler Alignment tool (BWA), and variants were called and annotated using GATK, ANNOVAR, and custom pipelines. Protein-coding variants were checked against established databases (1000 Genomes Project and dbSNP, version 134). All unreported variants following an autosomal dominant inheritance model were confirmed in the 5 subjects by Sanger sequencing, and the candidate variants were further validated in other individuals of the family by Sanger sequencing. […]

Pipeline specifications

Software tools BWA, GATK, ANNOVAR
Databases dbSNP
Application WES analysis
Organisms Homo sapiens
Diseases Primary Ovarian Insufficiency, Genetic Diseases, Inborn