Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.

Han H, Seo GH, Hyun SI, Kwon K, Ryu SW, Khang R, Lee E, Kim J, Song Y, Jeong WC, Han J, Kim DW, Yang S, Lee S, Jang S, Lee J, Lee H

Open source

DOI
10.1038/s41525-024-00455-3
Published
2025 Jan 22
Container
NPJ genomic medicine
Publisher
Not recorded
Open access
yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1038/s41525-024-00455-3,
  title = {Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.},
  author = {Han H and Seo GH and Hyun SI and Kwon K and Ryu SW and Khang R and Lee E and Kim J and Song Y and Jeong WC and Han J and Kim DW and Yang S and Lee S and Jang S and Lee J and Lee H},
  year = {2025},
  journal = {NPJ genomic medicine},
  doi = {10.1038/s41525-024-00455-3},
  url = {https://doi.org/10.1038/s41525-024-00455-3}
}

RIS

TY  - JOUR
TI  - Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.
AU  - Han H
AU  - Seo GH
AU  - Hyun SI
AU  - Kwon K
AU  - Ryu SW
AU  - Khang R
AU  - Lee E
AU  - Kim J
AU  - Song Y
AU  - Jeong WC
AU  - Han J
AU  - Kim DW
AU  - Yang S
AU  - Lee S
AU  - Jang S
AU  - Lee J
AU  - Lee H
PY  - 2025
JO  - NPJ genomic medicine
DO  - 10.1038/s41525-024-00455-3
UR  - https://doi.org/10.1038/s41525-024-00455-3
ER  - 

APA

H, H., GH, S., SI, H., K, K., SW, R., R, K., E, L., J, K., Y, S., WC, J., J, H., DW, K., S, Y., S, L., S, J., J, L., & H, L. (2025). Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.. NPJ genomic medicine. https://doi.org/10.1038/s41525-024-00455-3

Source records