Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data - Smolander, Johannes; Khan, Sofia; Singaravelu, Kalaimathy; Kauko, Leni; Lund, Riikka J.; Laiho, Asta; Elo, Laura L. (BMC genomics, 2021)
Keywords: Algorithms; Animal Genetics and Genomics; Biomedical and Life Sciences; Chromosomes; Comparative analysis; Copy number; Copy number variation; Copy number variations; DNA Copy Number Variations; DNA sequencing; Gene sequencing; Genetic research; Genomes; Genomics; High-Throughput Nucleotide Sequencing; Human and rodent genomics; Human embryonic stem cell; Life Sciences; Methods; Microarrays; Microbial Genetics and Genomics; Nucleotide sequencing; Performance evaluation; Plant Genetics and Genomics; Production methods; Proteomics; Research Article; Sex; Sex chromosomes; Statistical analysis; Stem cells; Ultra-low-coverage; Variation; Whole Genome Sequencing; Finland; Human embryonic stem cell; Copy number variation; Whole-genome sequencing; Ultra-low-coverage