Additional file 1 of A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
Year: 2020
Type: dataset
Abstract: Additional file 1: Table S1. Details of the high-quality true-positive CNVs from SNP array and the exome validation status. Table S2. List of exons in disease-associated genes that were excluded based on a mean mappabilty score of 0.75 or less. Table S3. Details of the CNVs used for false-discovery rate estimation against WGS data. Table S4. Details of the ES false negatives and SNP array false positive CNVs. Table S5. Details of CNVs that overlapped 10 SNPs in the SNP array and reviewed for determining false-discovery rate against SNP array.
Source: Figshare
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4394409936