当我进入 23andme 网页上的“您的原始数据”部分时,我可以查找某个 SNP 的结果。我用的是rs6565703。返回的数据是:
基因标记 (SNP) 基因组位置变异 您的基因型 DOC2B rs6565703 12344 A 或 CA / C
我了解,为了获得“您的基因型”,您必须通过每种变体返回的剂量来计算这一点。但是,当我使用相同的用户帐户时,如上所示,JSON 文件似乎返回纯合 A(AA),如下所示。
只是想弄清楚,为什么这些不同?
{
'accession_id' => 'NC_000017.10',
'is_no_call' => bless( do{\(my $o = 0)}, 'JSON::XS::Boolean' ),
'end' => 12344,
'alternate_ids' => [],
'variants' => [
{
'dosage' => '2',
'accession_id' => 'NC_000017.10',
'is_no_call' => $VAR1->[0]{'is_no_call'},
'end' => 12344,
'allele' => 'A',
'platform_labels' => [
'ILMN_CUSTOMv4',
'ILMN_OMNIEXv3_CUSTOMv3'
],
'is_assayed' => bless( do{\(my $o = 1)}, 'JSON::XS::Boolean' ),
'start' => 12343
},
{
'dosage' => '0',
'accession_id' => 'NC_000017.10',
'is_no_call' => $VAR1->[0]{'is_no_call'},
'end' => 12344,
'allele' => 'C',
'platform_labels' => [
'ILMN_CUSTOMv4',
'ILMN_OMNIEXv3_CUSTOMv3'
],
'is_assayed' => $VAR1->[0]{'variants'}[0]{'is_assayed'},
'start' => 12343
}
],
'id' => 'rs6565703',
'is_genotyped' => $VAR1->[0]{'variants'}[0]{'is_assayed'},
'is_assayed' => $VAR1->[0]{'variants'}[0]{'is_assayed'},
'gene_names' => [
'DOC2B'
],
'start' => 12343
}