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Evaluating the Performance of Exome Sequencing in Detecting Copy Number Variations

Evaluating the Performance of Exome Sequencing in Detecting Copy Number Variations

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2500101808
Enrollment
Unknown
Registered
2025-04-29
Start date
2025-05-01
Completion date
Unknown
Last updated
2025-05-05

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hereditary disease

Interventions

Gold Standard:chromosome microarray
Index test:coincidence rate, positive predictive rate, negative predictive rate, additional yield

Sponsors

Guangdong Women and Children Hospital
Lead Sponsor

Eligibility

Sex/Gender
All
Age
No minimum to 60 Years

Inclusion criteria

Inclusion criteria: Cases of suspected genetic influence

Exclusion criteria

Exclusion criteria: Cases not affected by genetic factors

Design outcomes

Primary

MeasureTime frame
coincidence rate;positive predictive rate;negative predictive rate;—

Secondary

MeasureTime frame
additional yield;—

Countries

China

Contacts

Public Contactzhangyan

Guangdong Women and Children Hospital

zhangyan1981_2003@aliyun.com+86 137 5177 5324

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026