Article
Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods.
Scientific reports - 28 Sept 2015
Mu John C, Tootoonchi Afshar Pegah, Mohiyuddin Marghoob, Chen Xi, Li Jian, Bani Asadi Narges, Gerstein Mark B, Wong Wing H, Lam Hugo Y K
Abstract excerpt
A high-confidence, comprehensive human variant set is critical in assessing accuracy of sequencing algorithms, which are crucial in precision medicine based on high-throughput sequencing. Although recent works have attempted to provide such a resource, they still do not encompass all major types of variants including structural variants (SVs). Thus, we leveraged the massive high-quality Sanger sequences from the...
Topics
- Benchmarking
- Genetic Variation
- Genome, Human
- Genomics
- High-Throughput Nucleotide Sequencing
- Humans