SPECIFIC STRUCTURAL VARIANTS DISCOVERED WITH NON-MENDELIAN INHERITANCE

摘要

The present disclosure is directed to methods of identifying structural variants (SVs) from single nucleotide polymorphisms (SNPs) that demonstrate non-Mendelian inheritance pattern (NMI) and finding the biological relevance of the SVs through machine learning. Also disclosed are processors programmed to identify biologically-relevant SVs and computer-readable storage devices comprising instructions to identify biologically-relevant SVs.