Quantifying single nucleotide variant detection sensitivity in exome sequencing.

Meynert, Alison M

Quantifying single nucleotide variant detection sensitivity in exome sequencing. [electronic resource] - BMC bioinformatics Jun 2013 - 195 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1471-2105

10.1186/1471-2105-14-195 doi


Alleles
Exome
Exons
Genetic Variation
Genome, Human
Genomics
Genotype
Genotyping Techniques
Heterozygote
High-Throughput Nucleotide Sequencing--methods
Homozygote
Humans