Systems and methods for genomic analysis
AssigneeArc Bio, LLC
InventorsAlejandro QUIROZ ZARATE, Roberto OLIVARES-AMAYA, Thomas James WATSON, JR., Helen Cecile VAN AGGELEN, Eduardo CORONADO SROKA, Carlos Antonio ANGULO SERMENO, Fernando FIMBRES JURADO, Abraham SOLIS GARCIA-INDA, Fernando FONTOVE HERRERA, Pablo G. COSTE
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Abstract
Provided herein are methods for aligning raw genetic sequence data generated by a sequencing device. Also provided herein are methods and systems for quantifying the probability that possible alignments for one or more read pairs are correct, for calling known variants, and for detecting novel structural variants.
Claims11
1-206. (canceled)
A method for identifying species and/or strains in a sample, the method comprising:
- a) retrieving a read;
- b) generating a k-mer profile from the read;
- c) querying the k-mer profile to an index of k-mer profiles from a reference sequence with alternate paths to call variants;
- and
- d) determining a species or a strain present in the sample based on the called variants.
Dependencies are inferred from the claim text.