A synthetic-diploid benchmark for accurate variant-calling evaluation.
Li, Heng
A synthetic-diploid benchmark for accurate variant-calling evaluation. [electronic resource] - Nature methods 08 2018 - 595-597 p. digital
Publication Type: Evaluation Study; Journal Article; Research Support, N.I.H., Extramural
1548-7105
10.1038/s41592-018-0054-7 doi
Algorithms
Benchmarking
Cell Line, Tumor
Databases, Genetic--standards
Diploidy
Female
Genetic Variation
Genome, Human
Homozygote
Humans
Hydatidiform Mole--genetics
Pregnancy
Synthetic Biology
Uterine Neoplasms--genetics
Whole Genome Sequencing--statistics & numerical data
A synthetic-diploid benchmark for accurate variant-calling evaluation. [electronic resource] - Nature methods 08 2018 - 595-597 p. digital
Publication Type: Evaluation Study; Journal Article; Research Support, N.I.H., Extramural
1548-7105
10.1038/s41592-018-0054-7 doi
Algorithms
Benchmarking
Cell Line, Tumor
Databases, Genetic--standards
Diploidy
Female
Genetic Variation
Genome, Human
Homozygote
Humans
Hydatidiform Mole--genetics
Pregnancy
Synthetic Biology
Uterine Neoplasms--genetics
Whole Genome Sequencing--statistics & numerical data