Evidence map›Paper›PMID 42333290›Full record

ArticleThe application of clinical genetics2026

Precise Reproductive Counseling Enabled by Long-Read Sequencing in a Case of a

Yuying Yan, Pengzhen Jin, Lidan Xu, Ya Ma, Minyue Dong

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PubMed Full text at PMC Publisher
In one paragraph

Article in The application of clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Yuying YanDepartment of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310000, People's Republic of China.
Pengzhen JinDepartment of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310000, People's Republic of China.
Lidan XuDepartment of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310000, People's Republic of China.
Ya MaDepartment of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310000, People's Republic of China.
Minyue DongDepartment of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310000, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To demonstrate the clinical value of integrating next-generation sequencing (NGS) with long-read sequencing (LRS) for resolving complex Patients and Methods: A patient with a history of three adverse pregnancy outcomes underwent comprehensive preconception genetic evaluation. NGS-based carrier screening initially excluded common single-gene disorders but flagged complex variants in the Results: NGS screening excluded 155 single-gene disorders and normal FMR1 repeats. LRS confirmed Conclusion: This case underscores that while NGS is an effective screening tool, its limitations in detecting structural variations necessitate a stepwise diagnostic approach. Integrating LRS was indispensable for resolving complex

Indexed as

F8 genehaemophilia Along-read sequencingpreconception genetic screeningreproductive strategystructural variant

Identifiers

PMID42333290
PMCPMC13283405

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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.