Systems and methods for genomic and genetic analysis
AssigneeMolecular Health GmbH
InventorsMartin STEIN, Regina BOHNERT, Nora RIEBER
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Abstract
The present invention relates to a method for genomic and/or genetic analysis of a human nucleic acid sample, the method comprising the steps of providing a group of human reference genomes; testing of the human nucleic acid sample for sex and/or ancestry; selecting one or more population-specific human reference genomes, PHREGs, from the group of human reference genomes on the basis on the results of the sex and/or ancestry test; and aligning the human nucleic acid sample to the selected PHREGs; and variant calling against the selected PHREGs. The present invention also provides respective computer systems and computer programs.
Claims16
A method for genomic and/or genetic analysis of a human nucleic acid sample comprising the following steps:
- a) providing a group of human reference genomes;
- b) testing of the human nucleic acid sample for sex and/or ancestry;
- c) selecting one or more population-specific human reference genomes, PHREGs, from the group of human reference genomes on the basis on the results of the sex and/or ancestry test in step b);
- and
- d) aligning the human nucleic acid sample to the selected PHREGs.
A computer system for genomic and/or genetic analysis of a human nucleic acid sample, the computer system comprising:
- a) a first module comprising computer instructions for providing a group of human reference genomes;
- b) a second module for testing of a human nucleic acid sample for sex and/or ancestry;
- c) a third module comprising computer instructions for selecting one or more population-specific human reference genomes, PHREGs, from the group of human reference genomes on the basis of the results of the sex and/or ancestry test;
- and
- d) a fourth module comprising computer instructions for aligning the human nucleic acid sample to the determined PHREGs.
Dependencies are inferred from the claim text.