Additional file 1 of Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

Name: Additional file 1 of Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders
Creator: Bélanger, Mathieu; Ben Amor, Mouna; Mamelona, Jean; Crapoulet, Nicolas; Robichaud, Philippe Pierre; Allain, Eric P.; Harquail, Jason; Crapoulet, Stéphanie; Bhérer, Claude; Belbraouet, Sarah
Published: 2022-04-30T00:00:00+08:00

Figshare2022-04-30 更新2026-04-08 收录

遗传病携带者筛查

群体遗传学

数据链接：

https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Pathogenic_variants_carrier_screening_in_New_Brunswick_Acadians_reveal_high_carrier_frequency_for_multiple_genetic_disorders/19687031/1 数据链接链接失效反馈

官方服务：

资源简介：

Additional file 1. Table S1. Genes included in sequencing panel. Table S2. Cohort characteristics. Table S3. Genetic diseases associated with genes in which pathogenic variants have been detected. Table S4. Allele frequency (AF) and heterozygotes frequencies (HF) comparisons with higher risk populations on gnomAD. Table S5. Hardy-Weinberg comparison.

提供机构：

Bélanger, Mathieu; Ben Amor, Mouna; Mamelona, Jean; Crapoulet, Nicolas; Robichaud, Philippe Pierre; Allain, Eric P.; Harquail, Jason; Crapoulet, Stéphanie; Bhérer, Claude; Belbraouet, Sarah

创建时间：

2022-04-30