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All functions

COMPRESSED_BINSIZE
Compressed bin size for synthetic cohort BAMs
bam_convert()
Count reads per bin from a BAM or CRAM file
bam_convert_bed()
Convert BAM/CRAM to a bgzipped BED bin-count file
bam_convert_npz()
Convert BAM/CRAM to WisecondorX NPZ format
bed_to_nipter_sample()
Read a NIPTeR-format BED file into a NIPTeRSample
bed_to_sample()
Read a WisecondorX-format BED file into a sample list
generate_cohort()
Generate a synthetic BAM cohort for testing
nipter_as_control_group()
Build a NIPTeR control group from a list of binned samples
nipter_bin_bam()
Bin a BAM/CRAM file — NIPTeR style
nipter_bin_bam_bed()
Write NIPTeR-style bin counts to a bgzipped BED file
nipter_chi_correct()
Chi-squared correction for overdispersed bins
nipter_control_group_from_beds()
Load a NIPTeR control group from a directory of TSV.bgz files
nipter_diagnose_control_group()
Diagnose a NIPTeR control group
nipter_gc_correct()
GC-correct a NIPTeR sample or control group
nipter_gc_precompute()
Pre-compute and save per-bin GC content to a TSV.bgz file
nipter_match_control_group()
Select best-matching controls for a sample
nipter_match_matrix()
Compute the full pairwise SSD matrix for a control group
nipter_ncv_score()
Normalised Chromosome Value (NCV) score
nipter_predict_sex()
Predict fetal sex for a NIPTeR sample
nipter_regression()
Regression-based Z-score for trisomy prediction
nipter_sex_model()
Build a sex prediction model from a NIPTeR control group
nipter_sex_model_y_unique()
Build a sex prediction model from Y-unique ratios
nipter_y_unique_ratio()
Compute Y-unique region read ratio from a BAM file
nipter_z_score()
Chromosomal Z-score
rwisecondorx_newref()
Build a WisecondorX reference from binned samples
rwisecondorx_predict()
Predict copy number aberrations using WisecondorX
scale_sample()
Scale a binned sample to a new bin size
sra_runinfo_url() download_sra_runinfo() read_sra_runinfo()
SRA Run Metadata Utilities
wisecondorx_convert()
Convert BAM/CRAM to WisecondorX NPZ format (upstream CLI wrapper)
wisecondorx_newref()
Build a WisecondorX reference panel
wisecondorx_predict()
Predict copy-number aberrations with WisecondorX
write_wisecondorx_output()
Write prediction output files