Evidence map›Paper›PMID 42287278›Full record

GuidelineGenetics in medicine : official journal of the American College of Medical Genetics2026

Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Saurav Guha, Indhu-Shree Rajan-Babu, Akanchha Kesari, Shreshtha Garg, Nancy C Rose, Bryce A Seifert, Honey V Reddi, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net

Abstract readPractice Guideline
PubMed Full text at PMC Publisher
In one paragraph

Guideline in Genetics in medicine : official journal of the American College of Medical Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Saurav GuhaNew York Genome Center, New York, NY.
Indhu-Shree Rajan-BabuDepartment of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada; Children's and Women's Hospital, Vancouver, BC, Canada.
Akanchha KesariIllumina, San Diego, CA.
Shreshtha GargHelix, Inc, San Mateo, CA.
Nancy C RoseDivision of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, UT.
Bryce A SeifertDivision of Intramural Research, NIAID, Bethesda, MD.
Honey V ReddiBelay Diagnostics, Chicago, IL.
ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.netAmerican College of Medical Genetics and Genomics, Bethesda, MD.

Funding

Intramural NIH HHS Z99 AI999999
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

DiagnosisNext-generation sequencingRepeat expansionsScreening

Identifiers

PMID42287278
PMCPMC13271160

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.