Low-depth rare DNA variant detection via sequence-selective and quantitative amplification
收藏NIAID Data Ecosystem2026-03-12 收录
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Mutation enrichment and profiling using QBDA technology
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创建时间：
2021-10-02
相关数据集
File S1 - A Two-Dimensional Pooling Strategy for Rare Variant Detection on Next-Generation Sequencing Platforms
Figure S1: Circos plot of filtered tracks, SNV calls and coverage over the region. The region of interest, a 250 kb region of chromosome 5 (5p15.33), is shown. Section A shows the genes TERT, CLPTM1L,
NIAID Data Ecosystem70
EGAS00001000460-sc-20140312 - samples
This study includes whole-genome sequencing data (at 4x depth) of 100 individuals from an Italian genetic isolate population (Carlantino, abbreviated CARL) of the Italian Network of Genetic Isolates (
NIAID Data Ecosystem50
Variant call file of rare variants of albinism and pigmentation genes with ≤1% frequency in gnomAD [39] seen in 45 AHM patients from the BNMS.
The genes reported in this study include TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, KITLG, POMC, SLC24A4, TPCN2. (VCF)
Figshare2020-09-23 更新30
Rare variants in fox-1 homolog A ( RBFOX1 ) are associated with lower blood pressure
Many large genome-wide association studies (GWAS) have identified common blood pressure (BP) variants. However, most of the identified BP variants do not overlap with the linkage evidence observed fro
NIAID Data Ecosystem70
Additional file 6: of High-specificity detection of rare alleles with Paired-End Low Error Sequencing (PELE-Seq)
Recommended PELE-Seq workflow and SNP-calling parameters. An overview of the PELE-Seq analysis pipeline is outlined and optimized variant-calling parameters are provided for various read depths. (XLSX
Figshare2016-12-14 更新30
