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资源简介：
prenatal screening of genomic abberrations
应用场景：
创建时间：
2022-05-13
相关数据集
CHD7 mutation in a prenatal case of CHARGE syndrome
Fetal exome sequencing was performed on a fetus with a variety of ultrasound and MRI findings and it revealed the presence of the novel c.2836-3C>G splicing mutation in CHD7 (Likely Pathogenic). CHARG
NIAID Data Ecosystem70
Homo sapiens (human blood) Genome sequencing. Homo sapiens
The genome sequence data of NIPD trio #1, including the genome sequencing of the father (PB), mother (blood cell), the offspring (cord blood) and the maternal plasma at GW of 13.
NIAID Data Ecosystem40
Additional file 2 of Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations
Additional file 2: All variants detected in the clinical exome sequencing. Dataset analized will be accessible with the following link: https://www.ncbi.nlm.nih.gov/sra/PRJNA706860 .
NIAID Data Ecosystem30
Table_2_A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.xlsx
Background: Array comparative genomic hybridization (aCGH), karyotyping and fluorescence in situ hybridization (FISH) analyses have been used in a clinical cytogenetic laboratory. A systematic analysi
NIAID Data Ecosystem50
Homo sapiens Genome sequencing and assembly. Homo sapiens
This study aims to perform a prenatal genetic diagnosis of a high-risk fetus with trisomy 7 identified by noninvasive prenatal testing (NIPT)
NIAID Data Ecosystem40
