Evidence map›Paper›PMID 40641074›Full record

ArticleClinical and translational medicine2025

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.

Soojin Hwang, Go Hun Seo, In Hee Choi, Seung-Woo Ryue, Ji Young Oh, Yoo-Mi Kim, Baik-Lin Eun, Jung Hye Byeon, Eugu Kang, Myungshin Kim and 19 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical and translational medicine, 2025. 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
–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

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

29 authors.

Soojin HwangDepartment of Paediatrics, Medical Genetics Centre, Asan Medical Centre, University of Ulsan College of Medicine, Seoul, South Korea.ORCID https://orcid.org/0000-0002-1779-237X
Go Hun SeoMedical Genetics Division, 3billion Inc., Seoul, South Korea.
In Hee ChoiDepartment of Genetic Counselling, University of Ulsan College of Medicine, Seoul, South Korea.
Seung-Woo RyueMedical Genetics Division, 3billion Inc., Seoul, South Korea.
Ji Young OhDepartment of Paediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Yoo-Mi KimDepartment of Paediatrics, Chungnam National University Sejong Hospital, Sejong, South Korea.
Baik-Lin EunDepartment of Paediatrics, Korea University College of Medicine, Seoul, South Korea.
Jung Hye ByeonDepartment of Paediatrics, Korea University College of Medicine, Seoul, South Korea.
Eugu KangDepartment of Paediatrics, Korea University College of Medicine, Seoul, South Korea.
Myungshin KimDepartment of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Hoon Seok KimDepartment of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Soyoung LeeDepartment of Paediatrics, Hallym University Sacred Heart Hospital, Anyang, South Korea.
Han Wool KimDepartment of Paediatrics, Hallym University Sacred Heart Hospital, Anyang, South Korea.
Dohyung KimDepartment of Paediatrics, Medical Genetics Centre, Asan Medical Centre, University of Ulsan College of Medicine, Seoul, South Korea.
Rin KhangMedical Genetics Division, 3billion Inc., Seoul, South Korea.
Jihye KimMedical Genetics Division, 3billion Inc., Seoul, South Korea.
Dongseok MoonMedical Genetics Division, 3billion Inc., Seoul, South Korea.
Seokhui JangMedical Genetics Division, 3billion Inc., Seoul, South Korea.
Yongjun SongMedical Genetics Division, 3billion Inc., Seoul, South Korea.
Gu-Hwan KimMedical Genetics Centre, Asan Medical Centre, University of Ulsan College of Medicine, Seoul, South Korea.
Kyoung Bo KimDepartment of Laboratory Medicine, Keimyung University School of Medicine, Daegu, South Korea.
Jun Hong ParkDepartment of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju, South Korea.
Seo Yeon YangDepartment of Genetic Counselling, University of Ulsan College of Medicine, Seoul, South Korea.
Yoo Kyoung ChoiDepartment of Genetic Counselling, University of Ulsan College of Medicine, Seoul, South Korea.
Su Min JiDepartment of Genetic Counselling, University of Ulsan College of Medicine, Seoul, South Korea.
Oc-Hee KimDepartment of Precision Medicine, Division of Genome Science, National Institute of Health, Cheongju, South Korea.
Mi-Hyun ParkDepartment of Precision Medicine, Division of Genome Science, National Institute of Health, Cheongju, South Korea.
Hyun-Young ParkNational Institute of Health, Cheongju, South Korea.
Beom Hee LeeDepartment of Paediatrics, Medical Genetics Centre, Asan Medical Centre, University of Ulsan College of Medicine, Seoul, South Korea.ORCID https://orcid.org/0000-0001-9709-2631

Funding

3billion Inc.Korea Disease Control and Prevention Agency 2023-ER0705-00
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID40641074
PMCPMC12245977

What OpenQuestion holds

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Registered trials

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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.