SVAFotate supporting files and data

Here we provide input BED files for use with SVAFotate that are derived from the SV datasets generated by CCDG, gnomAD, and 1000G. These are provided for GRCh37 and GRCh38 reference builds and the files are named:<br> <br> SVAFotate_core_SV_popAFs.GRCh37.bed.gz<br> SVAFotate_core_SV_popAFs.GRCh38.bed.gz Additional data files are included that contain the information necessary to generate the NeoSeq analysis as described in the SVAFotate manuscript. These correspond to SV calls made by the variant callers Smoove and Manta and annotations provided by SVAFotate using the provisional BED files listed above and also a custom NeoSeq-specific BED file. These files are named:<br> <br> manta_proband_GTs_AFs_NeoSeq_BED.txt<br> manta_proband_GTs_AFs_provisional_BED.txt<br> smoove_proband_GTs_AFs_NeoSeq_BED.txt<br> smoove_proband_GTs_AFs_provisional_BED.txt本研究提供适配SVAFotate工具的输入BED格式文件（BED），此类文件源自CCDG、gnomAD及1000G生成的结构变异（Structural Variant, SV）数据集。该类文件适配GRCh37与GRCh38参考基因组版本，具体文件名如下： SVAFotate_core_SV_popAFs.GRCh37.bed.gz SVAFotate_core_SV_popAFs.GRCh38.bed.gz 此外还包含额外数据文件，这些文件携带有生成NeoSeq分析所需的信息，对应SVAFotate研究手稿中所述的分析流程。此类文件对应由变异检测工具Smoove与Manta生成的结构变异调用结果，以及使用上述临时BED格式文件及定制化NeoSeq专属BED格式文件，经SVAFotate完成注释后的结果文件，具体文件名如下： manta_proband_GTs_AFs_NeoSeq_BED.txt manta_proband_GTs_AFs_provisional_BED.txt smoove_proband_GTs_AFs_NeoSeq_BED.txt smoove_proband_GTs_AFs_provisional_BED.txt