GoNL release 5 haplotype panel

The samples in this panel come from 250 families: 248 parents-child trios and 2 parent-child duos. As the children do not provide additional haplotypes or population information, they were excluded from the panel. The samples present in the release are composed of 248 couples, 2 single individuals and 1 sample composed from the 2 haplotypes from the duo's children transmitted by their missing parent. The composed sample is named gonl-220c_223c.The files contain a total of 18.9M SNVs and 1.1M INDELs in autosomal chromosomes. They were generated by phasing/imputing the SNVs (a) and INDELs (b) using MVNCall. Only sites passing filters are reported. Sites filtered as part of the GoNL inaccessible genome were kept (but flagged as filtered) and still may contain true positive calls but should be used with care as they are located in parts of the genome that are less well captured (systematic under or over-covered or low-mapping quality)

本面板中所收录的样本源自250个家庭：包括248个父母-子代三联体和2个父母-子代双联体。由于子代未能提供额外的单倍型或种群信息，因此它们被排除在面板之外。本次发布中包含的样本由248对夫妇、2位单身个体以及由缺失父代传递的来自双联体子代的两单倍型组成的1个样本构成。该组合样本命名为gonl-220c_223c。文件中包含了全基因组染色体上的18.9百万个单核苷酸多态性（SNVs）和110万个插入/缺失（INDELs）。这些数据是通过使用MVNCall对SNVs（a）和INDELs（b）进行分型/归因生成的。仅报告通过筛选的位点。作为GoNL不可及基因组部分的一部分，被筛选的位点被保留（但标记为筛选状态），尽管它们可能包含真实阳性调用，但鉴于这些位点位于基因组中捕获程度较差的区域（存在系统性覆盖不足或过度覆盖或低映射质量），在使用时需谨慎。