P6: gtc-to-vcf (VCF/BCF + indexes), harmonisation, exports (plink, bedgraph, finalreport)
- formats/fasta: plain/BGZF FASTA, .fai/.gzi built identical to htslib, index check, build detection, contig aliases, mmap genome cache (IN-060..064) - formats/bgzf, formats/bcf: pure-Python BGZF, tabix .tbi, BCF 2.2 and CSI (OUT-010, OUT-038, OUT-040) - harmonize/sites: plus-strand mapping with audit rows, indel resolution from SourceSeq (port of GTCtoVCF, Apache-2.0) and left normalisation (OUT-014..021, OUT-030, OUT-042) - harmonize/combine: OUT-031 genotype combination (ploidy-aware, Infinium I/II signal classes, OUT-037) - pipeline/vcf: `simurg gtc-to-vcf` (per-sample VCF.gz+tbi, --merge cohort BCF+csi, audit parquet) - pipeline/export: `simurg export bedgraph|finalreport|plink|locus-summary` (OUT-043, OUT-050..052, OUT-071) - validation: 36 GSA samples vs gtc2vcf: 23.66 M identical calls, 0 unexplained differences; PLINK identical to plink2 on 637,397 variants; bcftools validates VCF/BCF and our indexes answer region queries correctly - fetch_data.sh p6 (Ensembl GRCh38 with checksum), make_oracle_vcf.sh, validate_p6_vcf.py; K-022/K-023
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"""``simurg export bedgraph | finalreport | plink | locus-summary`` (spec CLI-023, OUT-043, OUT-050 … OUT-052,
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OUT-071, OUT-072). None of them re-genotypes: they read GTCs (or SimurgArray VCFs) plus the manifest.
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"""
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from __future__ import annotations
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import gzip
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import io
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import math
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import re
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from collections.abc import Iterator, Sequence
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from dataclasses import dataclass, field
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from pathlib import Path
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from typing import IO, Any, cast
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import numpy as np
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import numpy.typing as npt
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from simurg import PRODUCT_NAME, __version__
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from simurg.core.atomic import atomic_open, check_outputs_absent
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from simurg.core.errors import ExitCode, SimurgError
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from simurg.core.log import Reporter
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from simurg.core.provenance import RunManifest
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from simurg.formats.bpm import Manifest
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from simurg.formats.samplesheet import output_stem
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_COMP = bytes.maketrans(b"ACGTDI", b"TGCADI")
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LARGE_OUTPUT = 100_000_000
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# ------------------------------------------------------------------------------------------------ inputs
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@dataclass
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class GtcSample:
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sample_id: str
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sample_name: str
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path: str
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reported_sex: str = "U"
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def gtc_samples(gtcs: Path | None, sheet_path: Path | None, rep: Reporter) -> list[GtcSample]:
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"""Sheet order when a sheet is given, else sorted sample IDs (OUT-076)."""
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from simurg.formats.discovery import discover_gtcs
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from simurg.formats.samplesheet import parse_samplesheet
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sheet = parse_samplesheet(sheet_path) if sheet_path else None
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root = gtcs or (sheet.root_folder if sheet else None)
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if root is None:
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raise SimurgError("E_NO_INPUT", "give --gtcs or a sample sheet with a RootFolder")
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found = discover_gtcs(root)
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if sheet is None:
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return [GtcSample(k, k, str(v)) for k, v in sorted(found.items())]
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out = []
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for r in sheet.rows:
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if r.sample_id in found:
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out.append(GtcSample(r.sample_id, r.sample_name or r.sample_id, str(found[r.sample_id]), r.reported_sex))
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else:
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rep.warn("W_QC_UNMATCHED_SAMPLES", f"{r.sample_id}: no GTC found", sample_id=r.sample_id)
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if not out:
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raise SimurgError("E_NO_INPUT", "none of the sheet's samples has a GTC")
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return out
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def chrom_rank(chrom: str) -> tuple[int, str]:
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c = chrom[3:] if chrom.lower().startswith("chr") else chrom
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if c.isdigit():
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return (int(c) if c != "0" else 1000, "")
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return ({"X": 23, "XY": 24, "Y": 25, "MT": 26, "M": 26}.get(c, 100), c)
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def genome_order(m: Manifest) -> npt.NDArray[np.int64]:
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"""Loci by (chromosome, position, name); unmapped (Chr 0) last."""
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keys = [
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((1000, "") if c in ("0", "") or p <= 0 else chrom_rank(c), int(p), n)
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for c, p, n in zip(m.chroms, m.map_infos.tolist(), m.names, strict=True)
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]
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return np.array(sorted(range(len(keys)), key=keys.__getitem__), dtype=np.int64)
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# ------------------------------------------------------------------------------------------------ bedGraph
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def _chrom_label(chrom: str, style: str) -> str:
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c = "X" if chrom == "XY" else chrom
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if style == "ucsc":
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c = "M" if c == "MT" else c
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return c if c.startswith("chr") else f"chr{c}"
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return c
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def moving_median(v: npt.NDArray[np.float64], k: int) -> npt.NDArray[np.float64]:
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if k <= 0 or len(v) == 0:
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return v.copy()
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pad = np.pad(v, k, mode="edge")
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win = np.lib.stride_tricks.sliding_window_view(pad, 2 * k + 1)
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return np.nanmedian(win, axis=1)
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@dataclass
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class BedgraphLayout:
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"""Sample-independent part of OUT-050: loci in output order with their labels (computed once per manifest)."""
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order: npt.NDArray[np.int64] # mapped loci, genome order
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chrom: list[str] # output chromosome label per ordered locus
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pos: npt.NDArray[np.int64]
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def bedgraph_layout(m: Manifest, style: str) -> BedgraphLayout:
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order = genome_order(m)
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mapped = np.array([c not in ("0", "") for c in m.chroms]) & (m.map_infos > 0)
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order = order[mapped[order]]
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return BedgraphLayout(order, [_chrom_label(m.chroms[i], style) for i in order.tolist()], m.map_infos[order])
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def bedgraph_rows(m: Manifest, g: Any, layout: BedgraphLayout, which: str) -> list[tuple[str, int, float]]:
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"""OUT-050 rows (chrom, pos, value) for one track, in output order, same-position probes averaged."""
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vals = g.b_allele_freqs if which == "baf" else g.logr_ratios
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if len(vals) != m.num_loci:
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raise SimurgError("E_GTC_UNSUITABLE", "GTC has no BAF/LRR (GTC v3?)")
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o = layout.order
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v = vals[o].astype(np.float64)
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keep = ~((g.raw_x[o] == 0) & (g.raw_y[o] == 0)) & np.isfinite(v)
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if which == "baf":
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keep &= ~m.intensity_only[o]
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idx = np.flatnonzero(keep)
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if not len(idx):
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return []
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chrom = [layout.chrom[i] for i in idx.tolist()]
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pos = layout.pos[idx]
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new = np.ones(len(idx), np.bool_)
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new[1:] = (pos[1:] != pos[:-1]) | np.array([chrom[k] != chrom[k - 1] for k in range(1, len(chrom))])
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starts = np.flatnonzero(new)
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sums = np.add.reduceat(v[idx], starts)
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counts = np.diff(np.append(starts, len(idx)))
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means = sums / counts
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return [(chrom[k], int(pos[k]), float(x)) for k, x in zip(starts.tolist(), means.tolist(), strict=True)]
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def write_bedgraph(path: Path, name: str, which: str, rows: Sequence[tuple[str, int, float]], gz: bool) -> None:
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limits = "0:1" if which == "baf" else "-2:2"
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head = (
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f'track type=bedGraph name="{name} {which.upper()}" description="{PRODUCT_NAME} {__version__}" '
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f"visibility=full autoScale=off viewLimits={limits}\n"
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)
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body = "".join(f"{c}\t{p - 1}\t{p}\t{v:.6g}\n" for c, p, v in rows)
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data = (head + body).encode()
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with atomic_open(path, "wb") as fh:
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cast(IO[bytes], fh).write(gzip.compress(data, mtime=0) if gz else data)
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@dataclass
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class BedgraphOptions:
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out: Path
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bpm: Path
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gtcs: Path | None = None
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sheet: Path | None = None
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gzip: bool = True
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chrom_style: str = "manifest"
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smoothed_lrr: int = 0
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force: bool = False
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argv: list[str] = field(default_factory=list)
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def run_export_bedgraph(opts: BedgraphOptions, rep: Reporter) -> int:
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from simurg.formats.bpm import read_bpm
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from simurg.formats.gtc import read_gtc
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if opts.chrom_style not in ("manifest", "ucsc"):
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raise SimurgError("E_CONFIG_KEY", "--chrom-style must be manifest or ucsc")
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rm = RunManifest(command="export bedgraph", argv=opts.argv)
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samples = gtc_samples(opts.gtcs, opts.sheet, rep)
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ext = ".bedgraph.gz" if opts.gzip else ".bedgraph"
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outs = []
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for s in samples:
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stem = output_stem(s.sample_name)
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outs += [opts.out / f"{stem}.baf{ext}", opts.out / f"{stem}.lrr{ext}"]
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if opts.smoothed_lrr:
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outs.append(opts.out / f"{stem}.lrr_smoothed{ext}")
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check_outputs_absent(outs, force=opts.force)
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m = read_bpm(opts.bpm)
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layout = bedgraph_layout(m, opts.chrom_style)
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opts.out.mkdir(parents=True, exist_ok=True)
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failed = 0
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for s in samples:
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try:
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g = read_gtc(s.path)
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stem = output_stem(s.sample_name)
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for which in ("baf", "lrr"):
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rows = bedgraph_rows(m, g, layout, which)
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write_bedgraph(opts.out / f"{stem}.{which}{ext}", s.sample_name, which, rows, opts.gzip)
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if which == "lrr" and opts.smoothed_lrr:
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sm: list[tuple[str, int, float]] = []
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for chrom in dict.fromkeys(c for c, _, _ in rows):
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sub = [r for r in rows if r[0] == chrom]
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med = moving_median(np.array([r[2] for r in sub]), opts.smoothed_lrr)
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sm += [(c, p, float(v)) for (c, p, _), v in zip(sub, med, strict=True)]
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write_bedgraph(opts.out / f"{stem}.lrr_smoothed{ext}", s.sample_name, "lrr", sm, opts.gzip)
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except SimurgError as e:
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failed += 1
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rep.error(e.code, f"{s.sample_id}: {e.message}", sample_id=s.sample_id)
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rm.status = "completed"
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rm.summary = {"samples": len(samples), "failed": failed}
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rm.write(opts.out / "run_manifest.export_bedgraph.json")
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return ExitCode.OK if not failed else (ExitCode.PARTIAL if failed < len(samples) else ExitCode.ALL_FAILED)
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# ------------------------------------------------------------------------------------------------ final report
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FR_COLUMNS = ["SNP Name", "SNP", "Sample ID", "Allele1 - Top", "Allele2 - Top", "Allele1 - Forward",
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"Allele2 - Forward", "Allele1 - Plus", "Allele2 - Plus", "GC Score", "GT Score", "Log R Ratio",
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"B Allele Freq", "Chr", "Position"] # fmt: skip
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def allele_letters(m: Manifest) -> dict[str, list[tuple[str, str]]]:
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"""Per locus (A, B) letters on the TOP, Forward (source) and Plus (reference) strands."""
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top, fwd, plus = [], [], []
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for snp, ilmn, src, ref in zip(m.snps, m.ilmn_strands, m.source_strands, m.ref_strands, strict=True):
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mm = re.match(r"^\[([^/\]]+)/([^\]]+)\]$", snp.strip())
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a, b = (mm.group(1), mm.group(2)) if mm else ("-", "-")
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def comp(x: str) -> str:
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return x.encode().translate(_COMP).decode() if len(x) == 1 else x
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d = (ilmn or "")[:1].upper()
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top.append((a, b) if d in ("T", "P", "") or len(a) > 1 else (comp(a), comp(b)))
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same_src = (src or "")[:1].upper() == d or not src
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fwd.append((a, b) if same_src else (comp(a), comp(b)))
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plus.append((a, b) if (ref or "+").strip() == "+" else (comp(a), comp(b)))
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return {"top": top, "fwd": fwd, "plus": plus}
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def _pair(call: int, ab: tuple[str, str]) -> tuple[str, str]:
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a, b = ab
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return {1: (a, a), 2: (a, b), 3: (b, b)}.get(call, ("-", "-"))
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@dataclass
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class FinalReportOptions:
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out: Path
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bpm: Path
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gtcs: Path | None = None
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sheet: Path | None = None
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csv: Path | None = None
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egt: Path | None = None
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matrix: bool = False
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force: bool = False
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argv: list[str] = field(default_factory=list)
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def run_export_finalreport(opts: FinalReportOptions, rep: Reporter) -> int:
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from simurg.formats.bpm import read_bpm
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from simurg.formats.gtc import read_gtc
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rm = RunManifest(command="export finalreport", argv=opts.argv)
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samples = gtc_samples(opts.gtcs, opts.sheet, rep)
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target = opts.out / ("final_report_matrix.tsv.gz" if opts.matrix else "final_report.tsv.gz")
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check_outputs_absent([target], force=opts.force)
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m = read_bpm(opts.bpm)
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if opts.csv is not None:
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from simurg.formats.csv_manifest import read_csv_manifest
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cm = read_csv_manifest(opts.csv, load_sequences=False)
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m.source_strands, m.ref_strands = cm.source_strands, cm.ref_strands
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cells = m.num_loci * len(samples)
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if cells > LARGE_OUTPUT:
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rep.warn("W_LARGE_OUTPUT", f"{cells:,} rows (~{cells * 90 / 1e9:.1f} GB uncompressed); consider --matrix")
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gt_score = np.full(m.num_loci, np.nan)
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if opts.egt is not None:
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from simurg.formats.egt import read_egt
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egt = read_egt(opts.egt)
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idx = egt.name_index()
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for i, nm in enumerate(m.names):
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j = idx.get(nm)
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if j is not None:
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gt_score[i] = float(egt.gentrain_score[j])
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letters = allele_letters(m)
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order = genome_order(m).tolist()
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opts.out.mkdir(parents=True, exist_ok=True)
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def f4(v: float) -> str:
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return "NaN" if math.isnan(v) else f"{v:.4f}"
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with atomic_open(target, "wb") as raw:
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gz = gzip.GzipFile(fileobj=cast(IO[bytes], raw), mode="wb", mtime=0)
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fh = io.TextIOWrapper(gz, encoding="utf-8", newline="\n")
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fh.write("#simurg_schema=simurg.finalreport/1\n")
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if opts.matrix:
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fh.write("\t".join(["SNP Name", "Chr", "Position", *[s.sample_name for s in samples]]) + "\n")
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calls = []
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for s in samples:
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calls.append(read_gtc(s.path).genotypes)
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for i in order:
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row = [m.names[i], m.chroms[i], str(int(m.map_infos[i]))]
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row += ["".join(_pair(int(c[i]), letters["top"][i])) for c in calls]
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fh.write("\t".join(row) + "\n")
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else:
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fh.write("\t".join(FR_COLUMNS) + "\n")
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for s in samples:
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g = read_gtc(s.path)
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has = len(g.b_allele_freqs) == m.num_loci
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bc = g.base_calls
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for i in order:
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c = int(g.genotypes[i])
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f, p = (_pair(c, letters[k][i]) for k in ("fwd", "plus"))
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t = (chr(bc[i, 0]), chr(bc[i, 1])) if c else ("-", "-") # TOP-strand base calls (OUT-071)
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baf = float(g.b_allele_freqs[i]) if has and not m.intensity_only[i] else math.nan
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lrr = float(g.logr_ratios[i]) if has else math.nan
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fh.write(
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f"{m.names[i]}\t{m.snps[i]}\t{s.sample_id}\t{t[0]}\t{t[1]}\t{f[0]}\t{f[1]}\t{p[0]}\t{p[1]}\t"
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f"{f4(float(g.genotype_scores[i]))}\t{f4(gt_score[i])}\t{f4(lrr)}\t{f4(baf)}\t"
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f"{m.chroms[i]}\t{int(m.map_infos[i])}\n"
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)
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fh.flush()
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fh.detach()
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gz.close()
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rm.status = "completed"
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rm.summary = {"samples": len(samples), "loci": m.num_loci}
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rm.write(opts.out / "run_manifest.export_finalreport.json")
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return ExitCode.OK
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# ------------------------------------------------------------------------------------------------ PLINK
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PLINK_MAGIC = bytes([0x6C, 0x1B, 0x01])
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def parse_vcf_records(path: Path) -> Iterator[list[str]]:
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opener = gzip.open if str(path).endswith(".gz") else open
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with opener(path, "rt") as fh:
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for line in fh:
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if not line.startswith("#"):
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yield line.rstrip("\n").split("\t")
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def bed_code(gt: str, alt_index: int) -> int:
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"""PLINK 1 two-bit code with A1 = the split ALT, A2 = REF: 0 hom A1, 1 missing, 2 het, 3 hom A2."""
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if gt in (".", "./."):
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return 1
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al = gt.replace("|", "/").split("/")
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if "." in al:
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return 1
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n_alt = sum(int(x) == alt_index for x in al)
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if len(al) == 1:
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n_alt *= 2
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return {0: 3, 1: 2, 2: 0}[n_alt]
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@dataclass
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class PlinkOptions:
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out: Path
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vcfs: Path
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sheet: Path | None = None
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gtcs: Path | None = None
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multiallelic: str = "split"
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prefix: str = "cohort"
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force: bool = False
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argv: list[str] = field(default_factory=list)
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def run_export_plink(opts: PlinkOptions, rep: Reporter) -> int:
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"""OUT-043: SimurgArray per-sample VCFs (identical record order) → PLINK 1 .bed/.bim/.fam."""
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if opts.multiallelic not in ("split", "drop"):
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raise SimurgError("E_CONFIG_KEY", "--multiallelic must be split or drop")
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rm = RunManifest(command="export plink", argv=opts.argv)
|
||||
vcfs = sorted(p for p in opts.vcfs.glob("*.snv.vcf*") if not p.name.endswith((".tbi", ".csi")))
|
||||
if not vcfs:
|
||||
raise SimurgError("E_NO_INPUT", f"no *.snv.vcf(.gz) files in {opts.vcfs}")
|
||||
base = opts.out / opts.prefix
|
||||
check_outputs_absent([base.with_suffix(x) for x in (".bed", ".bim", ".fam")], force=opts.force)
|
||||
names, sex = [], {}
|
||||
for v in vcfs:
|
||||
opener = gzip.open if str(v).endswith(".gz") else open
|
||||
with opener(v, "rt") as fh:
|
||||
for line in fh:
|
||||
if line.startswith("#CHROM"):
|
||||
names.append(line.rstrip("\n").split("\t")[9])
|
||||
break
|
||||
if opts.gtcs is not None:
|
||||
from simurg.formats.discovery import discover_gtcs
|
||||
from simurg.formats.gtc import read_gtc
|
||||
|
||||
for key, gpath in discover_gtcs(opts.gtcs).items():
|
||||
sex[key] = read_gtc(gpath, check_write_complete=False).gender_char
|
||||
if opts.sheet is not None:
|
||||
from simurg.formats.samplesheet import parse_samplesheet
|
||||
|
||||
for r in parse_samplesheet(opts.sheet).rows:
|
||||
if r.reported_sex in ("M", "F"):
|
||||
sex[r.sample_name or r.sample_id] = sex[r.sample_id] = r.reported_sex
|
||||
streams = [parse_vcf_records(v) for v in vcfs]
|
||||
n = len(vcfs)
|
||||
nbytes = (n + 3) // 4
|
||||
opts.out.mkdir(parents=True, exist_ok=True)
|
||||
n_var = dropped = 0
|
||||
with (
|
||||
atomic_open(base.with_suffix(".bed"), "wb") as bed_raw,
|
||||
atomic_open(base.with_suffix(".bim"), "w", "utf-8") as bim_raw,
|
||||
):
|
||||
bed, bim = cast(IO[bytes], bed_raw), cast(IO[str], bim_raw)
|
||||
bed.write(PLINK_MAGIC)
|
||||
for recs in zip(*streams, strict=True):
|
||||
r0 = recs[0]
|
||||
if any(r[:5] != r0[:5] for r in recs[1:]):
|
||||
raise SimurgError("E_GTC_UNSUITABLE", f"VCF record order differs between samples at {r0[0]}:{r0[1]}")
|
||||
alts = [] if r0[4] == "." else r0[4].split(",")
|
||||
if len(alts) > 1 and opts.multiallelic == "drop":
|
||||
dropped += 1
|
||||
continue
|
||||
gts = [r[9].split(":", 1)[0] for r in recs]
|
||||
for k, alt in enumerate(alts, start=1):
|
||||
codes = [bed_code(g, k) for g in gts]
|
||||
buf = bytearray(nbytes)
|
||||
for j, c in enumerate(codes):
|
||||
buf[j >> 2] |= c << (2 * (j & 3))
|
||||
bed.write(bytes(buf))
|
||||
vid = r0[2] if len(alts) == 1 else f"{r0[2]}:{alt}"
|
||||
bim.write(f"{r0[0]}\t{vid}\t0\t{r0[1]}\t{alt}\t{r0[3]}\n")
|
||||
n_var += 1
|
||||
fam = "".join(f"{s}\t{s}\t0\t0\t{ {'M': 1, 'F': 2}.get(sex.get(s, 'U'), 0) }\t-9\n" for s in names)
|
||||
with atomic_open(base.with_suffix(".fam"), "w", "utf-8") as fam_raw:
|
||||
cast(IO[str], fam_raw).write(fam)
|
||||
rm.status = "completed"
|
||||
rm.summary = {"samples": n, "variants": n_var, "multiallelic_dropped": dropped}
|
||||
rm.write(opts.out / "run_manifest.export_plink.json")
|
||||
rep.info(f"PLINK fileset {base}.bed/.bim/.fam: {n} samples, {n_var} variants")
|
||||
return ExitCode.OK
|
||||
Reference in new issue
Block a user