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- Remove VEP annotation preparation section - Remove Cloud Export (S3) section - Remove Export Validation section - Remove Efficient Export Strategies section - Simplify export guide to focus on core export functionality - Maintain essential VCF/BCF and TSV export examples
5.6 KiB
5.6 KiB
TileDB-VCF Export Guide
Complete guide to exporting data from TileDB-VCF datasets in various formats for downstream analysis and integration with other genomics tools.
VCF/BCF Export
Basic VCF Export
import tiledbvcf
# Open dataset for reading
ds = tiledbvcf.Dataset(uri="my_dataset", mode="r")
# Export specific regions as VCF
ds.export_vcf(
uri="output.vcf.gz",
regions=["chr1:1000000-2000000"],
samples=["SAMPLE_001", "SAMPLE_002", "SAMPLE_003"]
)
BCF Export (Binary VCF)
# Export as compressed BCF for faster processing
ds.export_bcf(
uri="output.bcf",
regions=["chr1:1000000-2000000", "chr2:500000-1500000"],
samples=["SAMPLE_001", "SAMPLE_002"]
)
Large-Scale Export
# Export entire chromosomes efficiently
def export_chromosome(ds, chrom, output_dir, samples=None):
"""Export full chromosome data"""
output_path = f"{output_dir}/chr{chrom}.bcf"
print(f"Exporting chromosome {chrom}")
ds.export_bcf(
uri=output_path,
regions=[f"chr{chrom}"],
samples=samples
)
print(f"Exported to {output_path}")
# Export all autosomes
for chrom in range(1, 23):
export_chromosome(ds, chrom, "exported_data")
TSV Export
Basic TSV Export
# Export as tab-separated values
ds.export_tsv(
uri="variants.tsv",
regions=["chr1:1000000-2000000"],
samples=["SAMPLE_001", "SAMPLE_002"],
tsv_fields=["CHR", "POS", "REF", "ALT", "S:GT", "S:DP"]
)
Pandas DataFrame Export
Query to DataFrame
# Export query results as pandas DataFrame for analysis
df = ds.read(
attrs=["sample_name", "contig", "pos_start", "alleles", "fmt_GT", "info_AF"],
regions=["chr1:1000000-2000000"],
samples=["SAMPLE_001", "SAMPLE_002", "SAMPLE_003"]
)
# Save DataFrame to various formats
df.to_csv("variants.csv", index=False)
df.to_parquet("variants.parquet")
df.to_pickle("variants.pkl")
Processed Data Export
def export_processed_variants(ds, regions, samples, output_file):
"""Export processed variant data with calculated metrics"""
# Query raw data
df = ds.read(
attrs=["sample_name", "contig", "pos_start", "pos_end",
"alleles", "fmt_GT", "fmt_DP", "fmt_GQ", "info_AF"],
regions=regions,
samples=samples
)
# Add calculated columns
df['variant_id'] = df['contig'] + ':' + df['pos_start'].astype(str)
# Parse genotypes
def parse_genotype(gt):
if isinstance(gt, list) and len(gt) == 2:
if -1 in gt:
return "missing"
elif gt[0] == gt[1]:
return "homozygous"
else:
return "heterozygous"
return "unknown"
df['genotype_type'] = df['fmt_GT'].apply(parse_genotype)
# Filter high-quality variants
high_qual = df[
(df['fmt_DP'] >= 10) &
(df['fmt_GQ'] >= 20) &
(df['genotype_type'] != 'missing')
]
# Export processed data
high_qual.to_csv(output_file, index=False)
print(f"Exported {len(high_qual)} high-quality variants to {output_file}")
return high_qual
# Usage
processed_df = export_processed_variants(
ds,
regions=["chr1:1000000-2000000"],
samples=ds.sample_names()[:50], # First 50 samples
output_file="high_quality_variants.csv"
)
Integration with Analysis Tools
PLINK Format Export
def export_for_plink(ds, regions, samples, output_prefix):
"""Export data in format suitable for PLINK analysis"""
# Query variant data
df = ds.read(
attrs=["sample_name", "contig", "pos_start", "id", "alleles", "fmt_GT"],
regions=regions,
samples=samples
)
# Prepare PLINK-compatible data
plink_data = []
for _, row in df.iterrows():
gt = row['fmt_GT']
if isinstance(gt, list) and len(gt) == 2 and -1 not in gt:
# Convert genotype to PLINK format (0/1/2)
alleles = row['alleles']
if len(alleles) >= 2:
ref_allele = alleles[0]
alt_allele = alleles[1]
# Count alternative alleles
alt_count = sum(1 for allele in gt if allele == 1)
plink_data.append({
'sample': row['sample_name'],
'chr': row['contig'],
'pos': row['pos_start'],
'id': row['id'] if row['id'] else f"{row['contig']}_{row['pos_start']}",
'ref': ref_allele,
'alt': alt_allele,
'genotype': alt_count
})
# Save as PLINK-compatible format
plink_df = pd.DataFrame(plink_data)
# Pivot for PLINK .raw format
plink_matrix = plink_df.pivot_table(
index='sample',
columns=['chr', 'pos', 'id'],
values='genotype',
fill_value=-9 # Missing data code
)
# Save files
plink_matrix.to_csv(f"{output_prefix}.raw", sep='\t')
# Create map file
map_data = plink_df[['chr', 'id', 'pos']].drop_duplicates()
map_data['genetic_distance'] = 0 # Placeholder
map_data = map_data[['chr', 'id', 'genetic_distance', 'pos']]
map_data.to_csv(f"{output_prefix}.map", sep='\t', header=False, index=False)
print(f"Exported PLINK files: {output_prefix}.raw, {output_prefix}.map")
# Usage
export_for_plink(
ds,
regions=["chr22"], # Start with smaller chromosome
samples=ds.sample_names()[:100],
output_prefix="plink_data"
)
Best Practices
This comprehensive export guide covers all aspects of getting data out of TileDB-VCF in various formats optimized for different downstream analysis workflows.