Abstract：
Microhaplotypes (MHs) were first recommended by Prof. Kidd for use in forensics because they can improve human identification, kinship analysis, mixture deconvolution, and ancestry prediction. Since their introduction, extensive research has demonstrated the advantages of MHs in forensic applications and provided useful data for different populations. Currently, two databases, ALFRED (ALlele FREquency Database) and MicroHapDB (MicroHaplotype DataBase), house the published MH information and population data. We previously constructed a single nucleotide polymorphism SNP-SNP MH database (D-SNPsDB) of MHs within 50 bp on the whole human genome for 26 populations integrating basic data such as physical genome positions, mapping of variant identifiers (rsIDs), allele frequencies, and basic variant information. Building upon the previous research, we further selected MHs containing at least two variants (SNPs and/or insertions/deletions [InDels]) within a short DNA fragment (≤ 50 bp) in 26 populations based on the 1000 Genomes Project dataset (Phase 3) to construct a more comprehensive database. Subsequently, we established a user-friendly website that allows users to search the MH database (MHBase) based on their research objectives and study population to find suitable loci and provides other functions such as querying reported loci, performing online calculations using the PHASE software, and calculating ancestral-related parameters. The loci in the database are classified as SNP-based MHs, which include only SNPs, and InDel-including MHs, which contain at least one InDel. Here, we provide a detailed overview of the MHBase and an analysis of shared loci at the global and continental levels, ancestral markers, the genetic distance within loci, and mapping with the genome annotation file. The website is an accessible and useful tool for researchers engaged in marker discovery, population studies, assay development, and panel design.
摘要：
微单倍型（MHs）首先由教授推荐。Kidd用于取证，因为它们可以提高人类身份，亲属关系分析,混合反卷积，和祖先预测。自从他们的介绍,广泛的研究已经证明了MHs在法医应用中的优势，并为不同人群提供了有用的数据。目前,两个数据库,ALFRED（ALlele频率数据库）和MicroHapDB（MicroHaplotype数据库），储存公布的MH信息和人口数据。我们先前构建了一个单核苷酸多态性SNPSNPMH数据库（D-SNPsDB），该数据库在整个人类基因组的50bp内，针对26个种群整合了基本数据，例如物理基因组位置，变体标识符(rsID)的映射，等位基因频率，和基本变体信息。在先前研究的基础上，我们进一步基于1000GenomesProject数据集(第3阶段),在26个群体的短DNA片段(≤50bp)中选择了包含至少两个变异体(SNPs和/或插入/缺失[InDels])的MHs,以构建更全面的数据库.随后，我们建立了一个用户友好的网站，允许用户根据他们的研究目标和研究人群搜索MH数据库（MHBase）以找到合适的基因座，并提供其他功能，例如查询报告的基因座，使用PHASE软件执行在线计算，并计算与祖先相关的参数。数据库中的基因座被分类为基于SNP的MHs，其中只包括SNP，和InDel-包括MHs，其中包含至少一个InDel。这里,我们提供了MHBase的详细概述，并分析了全球和大陆层面的共享基因座，祖先标记，基因座内的遗传距离，用基因组注释文件作图。该网站是从事标记发现的研究人员的可访问和有用的工具，人口研究,测定开发，和面板设计。
