A Kränkel

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Methods The exons of the NLRP3 gene were amplified via PCR from genomic PBMC DNA. The obtained PCR products were sequenced with an Illumina HiSeq platform. For SNP calling we used the GATK pipeline of the 1000 Genome Project, if the coverage attained 40,000 fold. In order to prove the accuracy of the method, we quantified dilutions of a known heterozygous(More)
Methods All exons of NLRP3 were amplified by PCR (30 cycles) from genomic DNA isolated from PBMCs of healthy controls or CAPS patients. Thereafter, PCR products were concatenated, fragmented and subjected to NGS fragment library preparation followed by Illumina short read sequencing. For SNV calling a customized pipeline on basis of the GATK pipeline (1000(More)
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