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