变异检测与统计:参数与补充说明¶
用法和示例见功能教程。
各功能按作用、API、输入、输出、示例代码和结果说明介绍。运行前按说明准备凭据、本地文件与可选依赖;远程结果随数据库版本与查询时间变化。
计算满足注释与频率条件的编码变异比例¶
dnakit.databases.coding_variant_fraction(*, file, vaf_threshold=None, annotation=None, header_rows=None, vaf_col=None, so_col=None, verbose=True)
| 参数 | 类型 | 必填 / 默认值 | 说明与约束 |
|---|---|---|---|
file |
string | 必填 | Path to variant Excel (.xlsx) or CSV file. |
vaf_threshold |
number | None | Keep variants with VAF strictly less than this value. Default 0.3. |
annotation |
string | None | Sequence Ontology term to count in numerator. Default 'synonymous_variant'. |
header_rows |
integer | None | 1 for flat headers, 2 for MultiIndex (common in Excel variant reports). Default 1. |
vaf_col |
string | null | None | Explicit VAF column name. If empty, auto-detect from 'variant allele freq' or 'vaf'. |
so_col |
string | null | None | Explicit Sequence Ontology column name. If empty, auto-detect from 'sequence ontology'. |
verbose |
bool | True | 运行提示开关。 |
按过滤条件统计 VCF 变异数量¶
dnakit.databases.vcf_count_variants(*, operation=None, vcf_path, pass_only=None, regions=None, min_qual=None, include_expr=None, verbose=True)
| 参数 | 类型 | 必填 / 默认值 | 说明与约束 |
|---|---|---|---|
operation |
object | None | None | Operation (fixed) |
vcf_path |
string | 必填 | Path to a local .vcf, .vcf.gz, or .bcf file |
pass_only |
boolean | null | None | If true, count only FILTER=PASS or '.' records |
regions |
string | null | None | Restrict to a region, e.g. 'chr1' or 'chr1:1-1000000' |
min_qual |
number | null | None | Keep only records with QUAL >= this value |
include_expr |
string | null | None | Extra bcftools -i include expression, e.g. 'INFO/AF>0.01' |
verbose |
bool | True | 运行提示开关。 |
规范化 VCF 变异表示与多等位位点¶
dnakit.databases.vcf_normalize(*, operation=None, vcf_path, multiallelics=None, reference_fasta=None, verbose=True)
| 参数 | 类型 | 必填 / 默认值 | 说明与约束 |
|---|---|---|---|
operation |
object | None | None | Operation (fixed) |
vcf_path |
string | 必填 | Path to a local .vcf, .vcf.gz, or .bcf file |
multiallelics |
string | null | None | 'split' (default) breaks multiallelic records into biallelic; 'join' merges; 'none' leaves as-is |
reference_fasta |
string | null | None | Optional reference FASTA path; enables indel left-alignment (-f) |
verbose |
bool | True | 运行提示开关。 |
汇总 VCF 变异类型与样本基因型统计¶
dnakit.databases.vcf_summary_stats(*, operation=None, vcf_path, pass_only=None, regions=None, min_qual=None, include_expr=None, verbose=True)
| 参数 | 类型 | 必填 / 默认值 | 说明与约束 |
|---|---|---|---|
operation |
object | None | None | Operation (fixed) |
vcf_path |
string | 必填 | Path to a local .vcf, .vcf.gz, or .bcf file |
pass_only |
boolean | null | None | If true, count only FILTER=PASS or '.' records |
regions |
string | null | None | Restrict to a region, e.g. 'chr1' or 'chr1:1-1000000' (streamed, no index needed) |
min_qual |
number | null | None | Keep only records with QUAL >= this value |
include_expr |
string | null | None | Extra bcftools -i include expression, e.g. 'INFO/DP>10' |
verbose |
bool | True | 运行提示开关。 |