Precision medicine via the integration of phenotype-genotype information in neonatal genome project
The explosion of next-generation sequencing (NGS) has enabled the widespread use of genomic data in precision medicine. Currently, several neonatal genome projects have emerged to explore the advantages of NGS to diagnose or screen for rare genetic disorders. These projects have made remarkable achi...
Main Authors: | Xinran Dong, Tiantian Xiao, Bin Chen, Yulan Lu, Wenhao Zhou |
---|---|
Format: | Article |
Language: | English |
Published: |
KeAi Communications Co. Ltd.
2022-11-01
|
Series: | Fundamental Research |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2667325822002928 |
Similar Items
-
Rare among Rare: Phenotypes of Uncommon CMT Genotypes
by: Luca Gentile, et al.
Published: (2021-12-01) -
The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases
by: LI Guozhuang, et al.
Published: (2023-10-01) -
Phenotype-genotype correlation in β-thalassemia
by: R. Galanello, et al.
Published: (2011-12-01) -
Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy
by: Xingzhi Chang, et al.
Published: (2022-05-01) -
The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China
by: Chuan Zhang, et al.
Published: (2023-04-01)