Table 2 Characterization methods in different laboratories
Laboratories | Sample type | Methods and reagents | Sequencing platform |
|---|---|---|---|
Lab 1 | Cells | WGA: MGIEasy Single Cell Whole Genome Amplification Kit (MGI) | DNBSEQ-G400RS (MGI Tech Co., Ltd. China) |
WGA products & gDNA | NGS library: MGICare Monogenic Disease Haplotype Phasing Kit (MGI); NGS | ||
Lab 2 | Cells | WGA: REPLI-g Single Cell Kit (QIAGEN) | MiSeq (Illumina, USA) |
WGA products & gDNA | Gap-PCR; Sanger sequencing; NGS library: NEXTflex™ DNA-Seq Kit (Bioo Scientific); NGS | ||
Lab 3 | Cells | WGA: PicoPLEX® WGA Kit (TAKARA) | Ion Torrent DA8600 (Thermo Fisher Scientific, USA) |
WGA products & gDNA | Gap-PCR, NGS library: Preimplantation Genetic Diagnosis Kit for Thalassemia (BASECARE); NGS | ||
Lab 4 | Cells | WGA: REPLI-g Advanced DNA Single Cell Kit (QIAGEN); | NextSeq 550 (Illumina, USA) |
WGA products & gDNA | Gap-PCR; NGS library: HBA&HBB Pedigree Verification Kit (YIKON); NGS |