From: Value of next-generation sequencing in inherited arrhythmia syndromes
Test panel | Arrhythmia panel | ||||
Target enrichment method | Hybridization with oligonucleotide probes (GRM v1) | ||||
Massively parallel sequencing | MiSeq Dx (150Ā bpāĆā2; paired-end) | ||||
Reference genome | hg19 | ||||
Bioinformatic pipeline | BI_GRM v1.1 (Alignment: BWA, Variant calling: GATK) | ||||
Coverage | |||||
Mean coverage of depth (X): 240.93 X | % of target basesāā„ā10X: 100% | ||||
Basic target regions (30 genes; 117,771Ā bp) | Extended target regions (30 genes) | ||||
ABCC9 | HCN4 | PKP2 | ACTN2 | JUP | PRKAG2 |
AKAP9 | KCND3 | RANGRF | ANKRD1 | KCNA5 | RBM20 |
ANK2 | KCNE1 | RYR2 | BAG3 | LDB3 | SALL4 |
CACNA1C | KCNE2 | SCN1B | DES | LMNA | SCN2B |
CACNA2D1 | KCNE3 | SCN3B | DSC2 | MYH6 | TBX5 |
CACNB2 | KCNH2 | SCN4B | DSG2 | MYH7 | TGFB3 |
CALM1 | KCHJ2 | SCN5A | DSP | NKX2-5 | TMEM43 |
CASQ2 | KCNJ5 | SNTA1 | EMD | NPPA | TNNI3 |
CAV3 | KCNJ8 | TRN | GJA5 | PDLIM3 | TNNT2 |
GPD1L | KCNQ1 | TRPM4 | HADHA | PLN | TTN |