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US 2026/0226539 A1Published application
Methods and processes for non-invasive assessment of genetic variations
AssigneeSequenom, Inc.
InventorsDirk Johannes Van Den Boom, Charles R. Cantor, Sung Kyun Kim, Zeljko Dzakula, Cosmin Deciu
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Abstract
Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations.
Claims20
A method for detecting the presence or absence of a chromosome aneuploidy, comprising:
- (a) obtaining partial sequence reads for test sample nucleic acid by assigning one or more nucleotide species from a subset of the nucleotide species present in the sample nucleic acid at some but not all nucleotide positions of the partial sequence reads;
- wherein:
- the partial sequence reads are of a minimum length for unique mapping to a reference genome section,
- the test sample nucleic acid comprises circulating cell-free nucleic acid from a subject, and
- thousands to millions of partial sequence reads are generated;
- (b) mapping the thousands to millions of partial sequence reads to genomic sections of a reference genome, wherein the genomic sections comprise reference sequences composed of one or more nucleotide species from a subset of the nucleotide species present in the reference genome at some but not all nucleotide positions of the genomic sections;
- (c) receiving counts of the thousands to millions of partial sequence reads mapped to the genomic sections of the reference genome;
- and
- (d) outputting a classification of the presence or absence of a chromosome aneuploidy based on the counts.
6 more elements
A method for detecting the presence absence of a chromosome aneuploidy, comprising:
- (a) obtaining partial sequence reads for test sample nucleic acid by assigning one or more nucleobase classes at some or all nucleotide positions of the partial sequence reads, wherein:
- each nucleobase class represents two or more possible nucleotide species;
- the partial sequence reads are of a minimum length for unique mapping to a reference genome section;
- the test sample nucleic acid comprises circulating cell-free nucleic acid from a subject;
- and
- thousands to millions of partial sequence reads are generated;
- (b) mapping the thousands to millions of partial sequence reads to genomic sections of a reference genome, wherein the genomic sections comprise reference sequences composed of one or more nucleobase classes at some or all nucleotide positions of the genomic sections;
- (c) receiving counts of the thousands to millions of partial sequence reads mapped to the genomic sections of the reference genome;
- and
- (d) outputting a classification of the presence or absence of a chromosome aneuploidy based on the counts.
7 more elements
Dependencies are inferred from the claim text.