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gside(Genome Species IDentification Engine)

独立自包含的基因组物种鉴定 CLI:blastn 靶基因组合规则打底,skani / mash / sourmash 三路比对补充,all 模式按层仲裁,最终输出单一 JSON 判定。

鉴定模式

mode 底层引擎 原理
marker(默认) blastn 靶基因组合规则(38 条规则,81 条参考序列)
panel skani ANI 比对精选参考面板(291 基因组)
mash_refseq mash RefSeq MinHash 距离
sourmash sourmash GTDB gather
all 上述全部 顺序执行 4 种方法并按层仲裁

快速开始

pixi install && pip install -e .

# 物种鉴定(--mode 可选 marker/panel/mash_refseq/sourmash/all,默认 marker)
gside species contigs.fna --mode marker
gside species contigs.fna --mode panel
gside species contigs.fna --mode mash_refseq
gside species contigs.fna --mode sourmash
gside species contigs.fna --mode all

# 数据库管理(panel/mash/sourmash 需先下载对应库)
gside db status
gside db setup --tier panel

gside --version

判定阈值

  • marker:命中需同时满足 identity >= 85% 且 coverage >= 60%(全局阈值,逐 hit 过滤); 规则字段 min_hits(默认 1)、min_identity(默认 90);命中基因平均 identity >= 90% 判 high,否则 medium。
  • panel:ANI >= 95% 且 aligned_fraction >= 0.65 判 high;93% <= ANI < 95% 且 aligned_fraction >= 0.65 判 medium。
  • mash_refseq:identity >= 0.97 判 high;0.90 <= identity < 0.97 判 medium,更低为 low。

仲裁(all 模式)

按 marker、panel、mash_refseq、sourmash 顺序执行,随后仲裁:

  • panel / mash_refseq / sourmash 为第 2 层,marker 为第 1 层,层高者优先
  • 层优先于置信度,同层内 high 优先
  • 单法失败不终止其余方法,错误写入该方法在 JSON 中的条目

数据目录

变量 默认 内容
GSIDE_DATA_DIR <repo>/data 参考数据根目录(规则、fasta、预建库)
GSIDE_DB_DIR <data>/db 大型数据库(panel / mash sketch 等)
GSIDE_PIXI_BIN 自动发现 生信二进制目录(blastn / skani / mash)

数据分层:

  • mini:随仓库分发,含 marker_rules.yaml(38 条规则)、markers.fasta(81 序列) 与预建 BLAST 库,开箱即用
  • panel:skani 精选面板 sketch,约 130MB
  • mash:RefSeq MinHash sketch,约 179MB

自定义规则

编辑 data/db/D1_marker/marker_rules.yaml,字段为 species / genes / min_hits / min_identity / exclude_genes。修改 fasta 后重建 BLAST 库即生效, 无需改代码:

makeblastdb -in markers.fasta -dbtype nucl -out markers_blastdb

输出

统一 JSON 输出(stdout)。顶层字段:analysis_type / tool / version / contigs / methods / verdict。methods 内 panel、mash_refseq、sourmash 为 result 嵌套结构,marker 为扁平结构(无 result key)。gside species 恒以 退出码 0 结束,单法错误写入 JSON,不影响其余方法。

验证状态

  • marker 法 17/17 金标准基因组(含 10 株近缘阴性对照)
  • 3/3 新增物种真实参考株(C. jejuni / C. coli / S. pyogenes)
  • panel 法 17/17(291 基因组精选面板)

License

MIT

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