View clinical trials related to Copy Number Variation.
Filter by: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.
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.
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.