SYSTEMS AND METHODS FOR JOINT LOW-COVERAGE WHOLE GENOME SEQUENCING AND WHOLE EXOME SEQUENCING INFERENCE OF COPY NUMBER VARIATION FOR CLINICAL DIAGNOSTICS

摘要

Methods, systems, and software are provided for determining copy number variation status of a subject. A first plurality of nucleic acid sequences generated by whole genome sequencing at an average depth of 0.5× to 5× is obtained from a first sample. A second plurality of nucleic acid sequences generated by panel-targeted sequencing is obtained from a second sample. A first mapped dataset is obtained by mapping the first plurality of sequences to positions within a reference genome for the species of the subject. A second mapped dataset is obtained by mapping the second plurality of sequences to positions within a reference construct for genomic regions targeted by the panel-targeted sequencing. A model is applied to all or a portion of the first mapped dataset and all or a portion of the second mapped dataset, or dimensionality reduction components thereof.