Whole-exome sequencing (WES) was performed after enrichment with Roche/NimbleGen technology (SeqCap EZ Exome v2.0 Library) in a pool of 10 samples on an Illumina 1500 instrument in rapid mode (TruSeq Rapid SBS chemistry v1). WES data were analyzed with a focus on the mapped candidate region on chromosome 12 including PTPRQ, but also beyond that region (Supplementary Table S2 ).
Truseq rapid sbs chemistry
Manufactured by Illumina
The TruSeq Rapid SBS chemistry is a core sequencing reagent kit developed by Illumina. It enables rapid generation of high-quality sequencing data by providing the necessary biochemical components for the sequencing-by-synthesis process.
Automatically generated - may contain errors
2 protocols using truseq rapid sbs chemistry
1
Whole-Exome Sequencing to Uncover Genetic Variants
2
RNA Extraction and Sequencing from Tissues
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Prior to RNA isolation, tissue was disrupted in the homogenization buffer of the RNA extraction protocol using a Tissue Lyser instrument (Qiagen). RNA was isolated using the RNeasy Mini kit (Qiagen), performing specialized protocols for brain and muscle tissues as recommended by the manufacturer. The RNA was treated with DNase I on the affinity column before elution. Strand specific RNA-seq libraries, including poly-A(+) mRNA selection and RNA fragmentation, were prepared using the TruSeq Stranded RNA LT Kit (Illumina) according to the supplier’s instructions, with 2 μg total RNA as input. The resulting libraries had insert sizes of ca. 100–400 bp as indicated by DNA 7500 Chips run on an Agilent Bioanalyzer 2100 instrument (Agilent). All ten libraries were combined into a single pool. Sequencing of 200-nt paired-end reads was performed using an Illumina HiSeq 2500 apparatus in Rapid mode with TruSeq Rapid SBS chemistry on two lanes (Illumina). Read data for each library were extracted in FastQ format using the CASAVA software v1.8.4 (Illumina) using default settings.
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