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Record W4417117630 · doi:10.64898/2025.12.05.692676

XC-ID: De novo identification of the active X chromosome in single-cell RNA-seq

2025· article· W4417117630 on OpenAlexaff
Jesse Gillis

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2025
Typearticle
Language
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Canadian institutionsUniversity of Toronto
Fundersnot available
KeywordsX chromosomeX-inactivationAlleleIdentification (biology)HaplotypeEpigeneticsChromosome

Abstract

fetched live from OpenAlex

Abstract Motivation X chromosome inactivation (XCI) is an epigenetic process that equalizes X-linked gene dosage between females (XX) and males (XY). During early development, one X chromosome in each cell is randomly silenced and clonally inherited, producing a stable mosaic of two epigenetically distinct cell lineages. This mosaicism provides a natural internal control for studying cell-intrinsic regulatory differences between X lineages. However, identifying the active X chromosome in single cells remains difficult due to sparse allelic coverage, dependence on pre-phased references, and biological variability from XCI escape and skew. Results We present XC-ID ( X C hromosome inactivation ID entifier), a scalable computational framework for de novo identification of the active X chromosome from single-cell RNA-seq data. XC-ID employs a simulated-annealing algorithm to infer X-linked haplotype structure directly from allelic counts, followed by bootstrap-based confidence estimation to filter uncertain cell assignments. Applied to single-nucleus RNA-seq data from a female Mus musculus hybrid with known genotype, XC-ID achieved >99% accuracy in predicting the active X chromosome. The method remains robust to allelic noise, sequencing errors, and sparsity, and differential expression between inferred X lineages reveals biologically coherent dosage-compensation patterns. Availability XC-ID is available as a Python package with both API and command-line support at https://github.com/jlhjiang/XC-ID .

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.003
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.008
Threshold uncertainty score0.027

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.004
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0020.001
Open science0.0020.001
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0080.003

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.008
GPT teacher head0.222
Teacher spread0.214 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreMethods

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2025
Admission routes1
Has abstractyes

Explore more

Same venuebioRxiv (Cold Spring Harbor Laboratory)→Same topicGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities→French-language works237,207→