Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung, Berlin 10117, Germany.
Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin 13353, Germany.
Nucleic Acids Res. 2022 Jul 5;50(W1):W83-W89. doi: 10.1093/nar/gkac280.
With the shift from SNP arrays to high-throughput sequencing, most researchers studying diseases in consanguineous families do not rely on linkage analysis any longer, but simply search for deleterious variants which are homozygous in all patients. AutozygosityMapper allows the fast and convenient identification of disease mutations in patients from consanguineous pedigrees by focussing on homozygous segments shared by all patients. Users can upload multi-sample VCF files, including WGS data, without any pre-processing. Genome-wide runs of homozygosity and the underlying genotypes are presented in graphical interfaces. AutozygosityMapper extends the functions of its predecessor, HomozygosityMapper, to the search for autozygous regions, in which all patients share the same homozygous genotype. We provide export of VCF files containing only the variants found in homozygous regions, this usually reduces the number of variants by two orders of magnitude. These regions can also directly be analysed with our disease mutation identification tool MutationDistiller. The application comes with simple and intuitive graphical interfaces for data upload, analysis, and results. We kept the structure of HomozygosityMapper so that previous users will find it easy to switch. With AutozygosityMapper, we provide a fast web-based way to identify disease mutations in consanguineous families. AutozygosityMapper is freely available at https://www.genecascade.org/AutozygosityMapper/.
随着单核苷酸多态性 (SNP) 芯片向高通量测序的转变，大多数研究近亲家庭疾病的研究人员不再依赖连锁分析，而是简单地搜索所有患者均为纯合子的有害变异。AutozygosityMapper 通过专注于所有患者共享的纯合子片段，快速方便地识别来自近亲系谱的患者中的疾病突变。用户可以上传多样本 VCF 文件，包括 WGS 数据，而无需任何预处理。图形界面中呈现全基因组纯合子运行情况和潜在基因型。AutozygosityMapper 将其前身 HomozygosityMapper 的功能扩展到搜索所有患者共享相同纯合基因型的自同合区域。我们提供仅包含在纯合区域中发现的变体的 VCF 文件的导出，这通常将变体数量减少两个数量级。这些区域也可以直接使用我们的疾病突变识别工具 MutationDistiller 进行分析。该应用程序具有简单直观的图形界面，用于数据上传、分析和结果。我们保留了 HomozygosityMapper 的结构，以便以前的用户可以轻松切换。使用 AutozygosityMapper，我们提供了一种快速的基于网络的方法来识别近亲家庭中的疾病突变。AutozygosityMapper 可在 https://www.genecascade.org/AutozygosityMapper/ 免费获得。
