Frequencies of carrier status using exome sequencing data

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive Mendelian disorders using exome sequencing data in 1,642 Thais

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

TCTR

Registry ID

TCTR20230628004

Enrollment

1500

Registered

2023-06-28

Start date

2014-07-14

Completion date

Unknown

Last updated

2026-08-03

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

Conditions

Focused on carriers of pathogenic variants unrelated to the diagnosed diseases in the patient cohort. carriers

Interventions

exomes of unrelated Thai healthy individuals who were parents of patients with various rare diseases were recruited

Screening

Unrelated Thai healthy individuals

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: exomes of unrelated Thai healthy individuals who were parents of patients with various rare diseases were recruited

Exclusion criteria

Exclusion criteria: excluded variants in genes known to be responsible for the patients' diagnosed conditions.

Design outcomes

Primary

Measure	Time frame
carrier status at the beginning of study Pathogenic/Likely pathogenic	—

Secondary

Measure	Time frame
N/A N/A N/A	—

Countries

Thailand

Contacts

Public Contactwanna chetruengchai

Faculty of Medicine, Chulalongkorn University

wanna.c@chulahospital.org6622564000

Outcome results

None listed

Source: TCTR (via WHO ICTRP) · Data processed: Aug 9, 2026