Rimmer, Andy

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications. [electronic resource] - Nature genetics Aug 2014 - 912-918 p. digital

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

1546-1718

10.1038/ng.3036 doi


Algorithms
Chromosome Mapping--methods
Exome
Genome, Human
Genomic Structural Variation
Genotype
HLA Antigens--genetics
Haplotypes
High-Throughput Nucleotide Sequencing--methods
Humans
Mutation
Polymorphism, Single Nucleotide
Sensitivity and Specificity
Sequence Analysis, DNA--methods
Software