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Noll et al., 2016 - Google Patents

Clinical detection of deletion structural variants in whole-genome sequences

Noll et al., 2016

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Document ID
963373750665266686
Author
Noll A
Miller N
Smith L
Yoo B
Fiedler S
Cooley L
Willig L
Petrikin J
Cakici J
Lesko J
Newton A
Detherage K
Thiffault I
Saunders C
Farrow E
Kingsmore S
Publication year
Publication venue
NPJ genomic medicine

External Links

Snippet

Optimal management of acutely ill infants with monogenetic diseases requires rapid identification of causative haplotypes. Whole-genome sequencing (WGS) has been shown to identify pathogenic nucleotide variants in such infants. Deletion structural variants …
Continue reading at www.nature.com (HTML) (other versions)

Classifications

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    • G06F19/18—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
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