遗传分解hgvs,没有p. 采用c.
parent
778d55ed5b
commit
fb36b97329
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@ -6,6 +6,32 @@ import re
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import pandas as pd
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def split_hgvs(hgvs):
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hgvs_split = hgvs.split(':')
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if len(hgvs_split) == 4:
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gene, position, transcript_version, coordinate_type = hgvs_split
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# pattern = r'c\.\d+([\+\-])[12]\D+>\D+'
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# match = re.search(pattern, coordinate_type)
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# # if match:
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# # transcript_version =
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# # if match.group(1) == '-':X
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variant_version = None
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elif len(hgvs_split) == 5:
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gene, position, transcript_version, coordinate_type, variant_version = hgvs_split
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else:
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raise ValueError(f'Invalid HGVS format{hgvs}')
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return {
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'gene': gene,
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'transcript': position,
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'exon': transcript_version,
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'nacid': coordinate_type,
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'aacid': variant_version
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}
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class HereditaryRun:
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def __init__(self, database, project, output_dir, name, file):
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@ -30,21 +56,19 @@ class HereditaryRun:
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result_df = pd.DataFrame(columns=['Gene', 'Syndrome_Cn', 'inheritance', 'genotype', 'mutation'])
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for _, rows in data.iterrows():
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matches = re.match(r"([A-Za-z0-9]+):.*:(p\..*)", rows['AAChange_refGene'])
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row_df = pd.DataFrame(columns=['Gene', 'Syndrome_Cn', 'inheritance', 'genotype', 'mutation', 'ClinicalSign'])
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gene, mutation = '', ''
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if matches:
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gene = matches.group(1)
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mutation = matches.group(2)
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else:
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raise UserWarning('HGVS 解析错误!')
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# matches = re.match(r"([A-Za-z0-9]+):.*:(p\..*)", rows['AAChange_refGene'])
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matches = split_hgvs(rows['AAChange_refGene'])
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gene = matches['gene']
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aacid = matches['aacid'] if matches['aacid'] else matches['nacid']
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row_df = pd.DataFrame(
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columns=['Gene', 'Syndrome_Cn', 'inheritance', 'genotype', 'mutation', 'ClinicalSign'])
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selected_rows = expanded_database[expanded_database['Gene'].str.split(';').apply(lambda x: gene in x)]
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row_df['Syndrome_Cn'] = selected_rows['Syndrome_Cn']
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row_df['inheritance'] = selected_rows['inheritance']
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row_df['Gene'] = gene
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row_df['mutation'] = mutation
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row_df['mutation'] = aacid
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row_df['genotype'] = '纯合' if rows['Freq'] > 0.9 else '杂合'
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row_df['ClinicalSign'] = str(rows['ClinicalSign'])
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