Genomic Analysis of Korean Patients with Microcephaly

Jiwon Lee from Samsung Medical Center presents a study of 40 Korean patients with microcephaly. The research analyzed clinical phenotypes, radiologic images, and conducted whole exome sequencing and copy number variation analysis, achieving a diagnostic yield of 47.5%. The dataset likely contains genetic and clinical data from this cohort, highlighting a distinct genetic spectrum compared to other ethnicities.

Use Cases

• Identify pathogenic genetic variants associated with microcephaly based on whole exome sequencing data.
• Compare the genetic spectrum of microcephaly across different ethnicities based on the described cohort findings.
• Assess the diagnostic yield of combined WES and CNV analysis for neurodevelopmental disorders.
• Investigate correlations between specific gene mutations (e.g., KMT2A, GNB1) and clinical phenotypes like infantile hypotonia.

Strengths

• Data is derived from a clearly defined cohort of 40 patients.
• Analysis includes multiple data modalities: clinical phenotypes, radiologic images, WES, and CNV.
• The diagnostic yield of the combined genetic analysis is quantified at 47.5%.

Limitations

• Row count and specific column-level documentation are unknown, which may limit suitability assessment.
• Last update date is unknown; freshness unverified.
• Data may reflect geographic bias inherent to the single-center Korean cohort.

Provenance

Source

Samsung Medical Center

Collection Method

Clinical study involving patient enrollment, phenotype analysis, radiologic imaging, whole exome sequencing, and copy number variation analysis.

Geography

Korea