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