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易位核查

作用:用 read-pair 证据验证区分 Gifu 与 MG20 的 Chr1↔Chr2 易位是真实结构差异而非组装错误,并对多个样本批量分型:同一套 reads 比对到两个基因组,统计跨染色体 pair。 入口:run.sh 输入:trans.conf(3 列制表符分隔、无表头:sample、bam_gifu、bam_mg)及其中列出的 BAM;逐对计数另需坐标排序并建索引的 gifu2gifu.bam、gifu2mg.bam、mg2gifu.bam、mg2mg.bam;区域 Chr1:22829936-22849936(Gifu)与 Chr2:99260160-99280160(MG20)。 输出:bam.list;每样本 {sample}.trans.gifu_anchored.merged_pairs.tsv、{sample}.trans.mg_anchored.merged_pairs.tsv 与 4 个子集 BAM;汇总 lotus_translocation_typing.tsv(sample、n_cross_in_gifu_bam、n_cross_in_mg_bam、call、ratio_MG20、note);逐对计数在 stdout 出计数表并写 <bam>_chr1_chr2_pairs.txt 等文件。 运行:bash run.sh(须在存放 trans.conf、BAM 与 TSV 的目录中运行;文件末尾的逐对计数命令以注释保留,需单独运行)。 工具:pysam(BAM 访问)、pandas、numpy;samtools index;Python 3(finder 经 subprocess 调用,--min-support 默认 5,两侧都达标为 Mixed,都低于为 Uncertain);CSUB(-q c01、-n 88)。

English **Purpose**: Read-pair evidence that the Chr1↔Chr2 translocation distinguishing Gifu from MG20 is a real structural difference rather than a mis-assembly, plus batch typing across samples: the same reads are mapped to both genomes and cross-chromosome pairs are counted. **Entry point**: `run.sh` **Inputs**: `trans.conf` (3 tab-separated columns, no header: `sample`, `bam_gifu`, `bam_mg`) and the BAMs it lists; per-pair counting also needs the coordinate-sorted, indexed `gifu2gifu.bam`, `gifu2mg.bam`, `mg2gifu.bam`, `mg2mg.bam`; regions `Chr1:22829936-22849936` (Gifu) and `Chr2:99260160-99280160` (MG20). **Outputs**: `bam.list`; per sample `{sample}.trans.gifu_anchored.merged_pairs.tsv`, `{sample}.trans.mg_anchored.merged_pairs.tsv` and four subset BAMs; the summary `lotus_translocation_typing.tsv` (`sample`, `n_cross_in_gifu_bam`, `n_cross_in_mg_bam`, `call`, `ratio_MG20`, `note`); per-pair counting prints count tables to stdout and writes files such as `_chr1_chr2_pairs.txt`. **Run**: `bash run.sh` (must run in the directory holding `trans.conf`, the BAMs and the TSVs; the per-pair counting commands are kept commented at the end of the file and must be run separately). **Tools**: `pysam` (BAM access), pandas, numpy; `samtools index`; Python 3 (the finder is called through `subprocess`; `--min-support` defaults to 5, both sides at or above it give `Mixed`, below it on both sides gives `Uncertain`); CSUB (`-q c01`, `-n 88`).