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Copy Number Variation clinical trials

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NCT ID: NCT04561440 Recruiting - Clinical trials for Copy Number Variation

Copy Number Variation in Prenatal Diagnosis

Start date: December 1, 2016
Phase:
Study type: Observational

An observed study is aim to map the CNVs distribution in human genome of Chinese prenatal population. Setting: Prenatal diagnosis center of Taizhou City, Zhejiang Province Patient: total cases of pregnant women needed prenatal genetic diagnosing Methods: karyotype was performed with combined of molecular and cytogenic protocol. Subgroup: molecular karyotyping performed by genomic Chip (CMA) or NGS, the latter including cnv-seq and NIPT. Main outcome: comparison of CNVs distributions in subgroups. Second outcome: comparison of CNVs distributions in demographic dates.

NCT ID: NCT04191252 Recruiting - Clinical trials for Epithelial Ovarian Cancer

Genetic Mutation in Epithelial Ovarian Cancer

Start date: December 19, 2019
Phase:
Study type: Observational

Little is known about the characteristics of genetic mutation in a large multi-gene panel in epithelial ovarian cancer. This study is to explore the targeted genetic mutations via a multi-gene panel, which consists of more than 500 hundred genes. The mutation characteristics are to be revealed in single nucleotide variants, copy number variations, insertion-deletion variations, and genomic structural variations. The total mutation burden (TMB) will be calculated. The status of microsatellite instability, expression of PD-1 and PD-L1 antibodies are also tested. These findings will be studies in association with the patients' prognosis and sensitivity to platinum-based chemotherapy.

NCT ID: NCT04191226 Recruiting - Clinical trials for Recurrent Cervical Cancer

Genetic Mutation in Recurrent Cervical Cancer

Start date: December 19, 2019
Phase:
Study type: Observational

Little is known about the characteristics of genetic mutation in recurrent cervical cancer. This study is to explore the targeted genetic mutations via a multi-gene panel, which consists of more than 500 hundred genes. The mutation characteristics are to be revealed in single nucleotide variants, copy number variations, insertion-deletion variations, and genomic structural variations. The total mutation burden (TMB) will be calculated. The status of microsatellite instability, expression of PD-1 and PD-L1 antibodies are also tested. These findings will be studies in association with the patients' prognosis and sensitivity to platinum-based chemotherapy and immunotherapy.