February 22, 2024Open Access

Genetic findings of children with congenital heart diseases using chromosome microarray and trio-based whole exome sequencing

View Full Paper

Ask AI

Bookmark

Authors

RGRui GuoBeijing Institute of Technology CDChunhong DuanShandong Provincial Hospital MZMehdi ZarreiRoyal Botanic Gardens, Kew

Discussion

Member takes

Implication

Observational analysis demonstrates a 30.7% genetic diagnostic yield in pediatric congenital heart disease, indicating the utility of paired genomic sequencing.

Key Points

Combined genetic diagnostic yield reached 30.7% in congenital heart disease, identifying causal structural variants and point mutations.
A 21.8% rate of chromosomal abnormalities and an 8.9% rate of sequence variants emerged from 101 affected pediatric individuals.
Analysis of 101 parent-child trios using first-tier chromosome microarray followed by trio-based whole exome sequencing mapped varied causal variants.

Cite This Study

Guo et al. (2024) studied this question.

synapsesocial.com/papers/68e780ddb6db6435876f4514 https://doi.org/10.21203/rs.3.rs-3969530/v1

View Full Paper

Ask AI

Bookmark

Implication

Observational analysis demonstrates a 30.7% genetic diagnostic yield in pediatric congenital heart disease, indicating the utility of paired genomic sequencing.

Genetic findings of children with congenital heart diseases using chromosome microarray and trio-based whole exome sequencing

Discussion

Member takes

Implication

Key Points

Cite This Study

Genetic findings of children with congenital heart diseases using chromosome microarray and trio-based whole exome sequencing

Discussion

Member takes

Implication

Key Points

Cite This Study

Also Consider

Also Consider