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Standage et al., 2019 - Google Patents

Kevlar: a mapping-free framework for accurate discovery of de novo variants

Standage et al., 2019

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Document ID
8263955960292960659
Author
Standage D
Brown C
Hormozdiari F
Publication year
Publication venue
Iscience

External Links

Snippet

De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of interest. To …
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    • G06F19/22Bioinformatics, 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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