Evidence map›Paper›PMID 38873112›Full record

ArticleFrontiers in genetics2024

Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases.

Yanan Wang, Yuqiong Chai, Jieqiong Wang, Mingya Gao, Weiwei Zang, Yujie Chang

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Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

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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

6 authors.

Yanan WangDepartment of Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, China.
Yuqiong ChaiDepartment of Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, China.
Jieqiong WangDepartment of Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, China.
Mingya GaoDepartment of Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, China.
Weiwei ZangDepartment of Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, China.
Yujie ChangDepartment of Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To determine the genetic causes of monogenic inherited diseases in a couple using clinical whole exome sequencing (WES) and advise on their reproductive choices. Methods: WES was applied to a couple seeking reproductive advice, the female with short stature and the male with congenital cataracts. Results: (1) The woman exhibited a 13.8 Kb heterozygous deletion at chrX: 591590-605428 (hg19). This region corresponds to exons 2-6 of the short-stature homeobox-containing ( Conclusion: WES identified pathogenic variants in both individuals, suggesting a 25% chance of a healthy child naturally. Third-generation assisted reproductive techniques are recommended to minimize the risk of affected offspring.

Indexed as

cataractsclinical whole exome sequencingCRYBB3 geneshort statureSHOX gene

Identifiers

PMID38873112
PMCPMC11169610

What Socratic holds

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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 Socratic graph.