Exonic and adjacent intronic sequences were enriched from genomic DNA isolated from blood and saliva of the index patient and the parents using the NimbleGen SeqCap EZ Human Exome Library v2.0 enrichment kit, and sequenced on a HiSeq2000 platform (Illumina). WES data analysis and filtering of mapped targeted sequences was carried out using the “Varbank” exome and genome analysis pipeline v2.6 of the Cologne Center for Genomics (CCG, University of Cologne, Germany); we obtained a mean coverage of 75–95 reads, with 95.9–96.7% of target sequences covered more than 10×. Trio-WES data were filtered for high quality (coverage of >6 reads, minimum quality score of 10), rare autosomal recessive and de novo variants (i.e., with minor allele frequency of <0.5% in the 1000 Genomes database, the Exome Aggregation Consortium browser, and not annotated in all in-house WES datasets of the CCG). Primary fibroblasts from the index patient were isolated via standard skin biopsy, and all downstream work was performed in accordance to the Helsinki Declaration protocols and reviewed and approved by the local institutional Ethics boards (University Hospital Cologne, Germany; University Medical Center Göttingen, Germany).
Seqcap ez human exome library v2
Manufactured by Illumina
The SeqCap EZ Human Exome Library v2.0 is a targeted enrichment system designed for sequencing the protein-coding regions of the human genome, known as the exome. It provides a comprehensive coverage of the human exome, enabling efficient and cost-effective genetic analysis.
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2 protocols using seqcap ez human exome library v2
1
Whole Exome Sequencing for Rare Variants
2
Rare Autosomal Recessive Variant Detection through Whole-Exome Sequencing
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Whole-exome sequencing was performed on the index patient IV.1 of family FAM-01. Exonic and adjacent intronic sequences were enriched from genomic DNA using the NimbleGen SeqCap EZ Human Exome Library v2.0 enrichment kit and were run on an Illumina HiSeq2000 sequencer by the Cologne Center for Genomics (CCG). Data analysis and filtering of mapped target sequences was performed with the 'Varbank' exome and genome analysis pipeline v.2.1 (CCG) and data were filtered for high-quality (coverage of more than six reads, a minimum quality score of 10), rare (MAF < 0.5%) autosomal recessive variants. A disease-associated gene panel was performed on DNA of the index patient II.2 of family FAM-02 using the TruSight™ One Sequencing Panel (4813 genes included, Illumina) with paired-end sequencing (Tru-Seq Rapid Kit, 150 Fwd-150 Rev) on a Illumina HiSeq System. The average depth of coverage was ×145 and about 94.2% of the targeted bases were assessed by ≥20 independent sequence reads.
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