Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance.

ABSTRACT:

Background

Genomic DNA reference materials are widely recognized as essential for ensuring data quality in omics research. However, relying solely on reference datasets to evaluate the accuracy of variant calling results is incomplete, as they are limited to benchmark regions. Therefore, it is important to develop DNA reference materials that enable the assessment of variant detection performance across the entire genome.

Results

We established a DNA reference material suite from four immortalized cell lines derived from a family of parents and monozygotic twins. Comprehensive reference datasets of 4.2 million small variants and 15,000 structural variants were integrated and certified for evaluating the reliability of germline variant calls inside the benchmark regions. Impo

SUBMITTER: Ren L 

PROVIDER: S-EPMC10680274 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature