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

**Authors:** 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, Hoon Seok Kim, Soyoung Lee, Han Wool Kim, Dohyung Kim, Rin Khang, Jihye Kim, Dongseok Moon, Seokhui Jang, Yongjun Song, Gu‐Hwan Kim, Kyoung Bo Kim, Jun Hong Park, Seo Yeon Yang, Yoo Kyoung Choi, Su Min Ji, Oc‐Hee Kim, Mi‐Hyun Park, Hyun‐Young Park, Beom Hee Lee

PMC · DOI: 10.1002/ctm2.70401 · Clinical and Translational Medicine · 2025-07-10

## Full-text entities

- **Genes:** PCSK9 (proprotein convertase subtilisin/kexin type 9) [NCBI Gene 255738] {aka FH3, FHCL3, HCHOLA3, LDLCQ1, NARC-1, NARC1}, BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}, MYL3 (myosin light chain 3) [NCBI Gene 4634] {aka CMH8, MLC-lV/sb, MLC1SB, MLC1V, VLC1, VLCl}
- **Diseases:** rheumatologic diseases (MESH:D012216), cardiovascular and ophthalmologic disorder (MESH:D002318), familial cylindromatosis (MESH:C536611), osteogenesis imperfecta type I (MESH:D010013), endocrine disorders (MESH:D004700), Loeys-Dietz syndrome (MESH:D055947), tumour syndrome (MESH:D009369), skeletal disorders (MESH:C564967), GS (MESH:D042822), neurodevelopmental disorders (MESH:D002658), familial thoracic aortic aneurysm (MESH:C562834), congenital heart disease (MESH:D006330), respiratory disorders (MESH:D012131), urinary tract disorders (MESH:D014570), hearing/ear disorders (MESH:D004427), cardiomyopathy (MESH:D009202), Alport syndrome (MESH:D009394), polycystic kidney disease (MESH:D007690), neurologic disorders (MESH:D009461), autoimmune/rheumatologic disorders (MESH:D001327), dysmorphic and congenital abnormalities (MESH:D000013), ophthalmological disorders (MESH:C536647), genetic disorders (MESH:D030342), scoliosis (MESH:D012600), RD (MESH:D000077733), RDs (MESH:D035583)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12245977/full.md

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12245977/full.md

## References

9 references — full list in the complete paper: https://tomesphere.com/paper/PMC12245977/full.md

---
Source: https://tomesphere.com/paper/PMC12245977