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Record W3173280716 · doi:10.1172/jci138022

Serine hydroxymethyltransferase 2 expression promotes tumorigenesis in rhabdomyosarcoma with 12q13-q14 amplification

2021· article· zh· W3173280716 on OpenAlexaff
Thanh Nguyen, Prasantha L. Vemu, Gregory Hoy, Salah Boudjadi, Bishwanath Chatterjee, Jack F. Shern, Javed Khan, Wenyue Sun, Frederic G. Barr

Bibliographic record

VenueJournal of Clinical Investigation · 2021
Typearticle
Languagezh
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer-related gene regulation
Canadian institutionsPediatric Oncology Group
FundersMedical School, University of MichiganNational Institutes of HealthGeorge Washington UniversityNational Cancer InstitutePrinceton University
KeywordsAmpliconBiologyCarcinogenesisCancer researchRhabdomyosarcomaSerine hydroxymethyltransferaseMolecular biologyGeneGeneticsSerinePolymerase chain reactionPathologySarcomaMedicine

Abstract

fetched live from OpenAlex

as follows: FP RMS (32%), GBM (17%), LUAD (5%), and DDLPS (90%) (Table 1).For the LPS category, the myxoid LPS subtype (MLPS), which is generally not amplified in this region, was used to provide a sufficient number of amplicon-negative LPS cases for comparison with the amplicon-positive DDLPS cases.This low-resolution analysis of 12q13-q14 amplification identified genomic features that differ among the tumor categories.For DDLPS, most cases had coamplification of the 12q15 region with an intervening nonamplified region.In contrast, GBM had deletion events adjacent to these amplification events.As another variation, the amplicons in LUAD often extended from the 12q13-q14 region through the 12q15 region and further to the 12q21 region.Among these 4 tumor types, FP RMS was distinguished by the presence of focal 12q13-q14 amplification without a high frequency of 12q15 coamplification, adjacent deletion, or elongated amplicons.In this study, we limited our subsequent characterization to amplification of the 12q13-q14 region due to its specificity to FP RMS samples. Copy number analysis.We next developed a statistical approach to defining the common 12q13-q14 amplification events in RMS, GBM, LUAD, and LPS.In contrast to approaches that only determine the minimal common amplified region, we wanted to statistically define a high-confidence region of amplification for each cancer type.We divided the chromosomal regions of interest into multiple segments, where the segment length was chosen to provide a sufficient number of probes to reliably determine the copy number of each segment and detect statistically relevant differences in copy number between amplicon-positive and amplicon-negative samples.The overall region under analysis was chosen such that copy number changes in amplified cases returned back to baseline within the outermost segments of the region or at least were consistently scored as not significantly amplified based on the filtering criteria described below.

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)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.002

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.035
GPT teacher head0.331
Teacher spread0.296 · 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 designObservational
Domainnot available
GenreEmpirical

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

Citations26
Published2021
Admission routes1
Has abstractyes

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