HG001-HG002-HG003: high molecular weight (HMW) DNA, D4Z4-locus on chr4 & chr10

This repository contains the sequencing data from the human reference genomes HG001, HG002 and HG003 from the whole genome sequencing and adaptive sampling runs with long-read sequencing with Nanopore (Oxford Nanopore Technologies, UK). The high molecular weight (HMW) DNA from the cell-cultures were extracted with Monarch HMW-DNA Extraction Kit for Tissue (NEB, US) and the library prepared with SQK-ULK114 Kit ((Oxford Nanopore Technologies, UK). The data were basecalled with Dorado basecaller with methylation calling for 5mCG and 5hmCG in SUP mode. The sequencing data are mapped, indexed and sorted bam files aligned to the T2T-chm13v2.0 reference and further filtered for the D4Z4 locus on chromosome 4 (4q35) and the homologous region on chromosome 10 (10q26).<br><br>

本数据集仓库包含采用英国牛津纳米孔技术公司（Oxford Nanopore Technologies, UK）的纳米孔（Nanopore）长读长测序技术开展全基因组测序与自适应采样实验所获得的人类参考基因组HG001、HG002及HG003的测序数据。<br><br>本研究使用组织型Monarch高分子量（high molecular weight, HMW）DNA提取试剂盒（NEB，美国）提取细胞培养物中的高分子量DNA，并采用SQK-ULK114建库试剂盒（英国牛津纳米孔技术公司）完成文库构建。<br><br>测序数据通过Dorado碱基识别器（Dorado basecaller）以SUP模式完成碱基识别，同时开展5mCG与5hmCG的甲基化修饰检测。<br><br>本数据集包含经比对、索引与排序的BAM文件，所有文件均比对至T2T-chm13v2.0参考基因组，且已针对4号染色体（4q35）上的D4Z4位点以及10号染色体（10q26）上的同源区域进行了过滤。