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Oliveira et al., 2018 - Google Patents

Evaluating runs of homozygosity in exome sequencing data-utility in disease inheritance model selection and variant filtering

Oliveira et al., 2018

Document ID
15655603906895926543
Author
Oliveira J
Pereira R
Santos R
Sousa M
Publication year
Publication venue
Biomedical Engineering Systems and Technologies: 10th International Joint Conference, BIOSTEC 2017, Porto, Portugal, February 21–23, 2017, Revised Selected Papers 10

External Links

Snippet

Runs of homozygosity (ROH) are regions consistently homozygous for genetic markers, which can occur throughout the human genome. Their size is dependent on the degree of shared parental ancestry, being longer in individuals descending from consanguineous …
Continue reading at link.springer.com (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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    • G06F19/22—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
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    • G06F19/14—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for phylogeny or evolution, e.g. evolutionarily conserved regions determination or phylogenetic tree construction
    • 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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    • 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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