Variant detection sensitivity and biases in whole genome and exome sequencing - Meynert, Alison M; Ansari, Morad; FitzPatrick, David R; Taylor, Martin S (BMC bioinformatics, 2014)
Keywords: Alleles; Analysis; Cancer; Coding; Comparative analysis; Economics; Exome - genetics; Gene sequencing; Genes; Genetic aspects; Genetics; Genome, Human - genetics; Genomes; Genomics; Genomics - methods; Genotype & phenotype; Humans; Mutation; Mutations; Open Reading Frames - genetics; Polymorphism; Polymorphism, Single Nucleotide - genetics; Proteins; Sequence Analysis, DNA - methods; Single nucleotide polymorphisms; Variability