SYSTEMS AND METHODS FOR NON-INVASIVE PREIMPLANTATION GENETIC DIAGNOSIS

摘要

A system for identifying genomic features in an embryo candidate is disclosed. The system includes a genomics sequencer, a computing device and a display. The genomic sequencer is configured to obtain sequence information from concatenated genomic fragments derived from an embryo candidate. The concatenated genomic fragments each contain at least one genomic linker segment and at least one genomic fragment from the embryo candidate. The computing device is communicatively connected to the genomic sequencer and includes a sequence alignment engine and a genomic features identification engine. The sequence alignment engine is configured to subtract out sequence information related to the genomic linker segment portion of the concatenated genomic fragments and align the genomic fragment sequences to a reference genome. The genomic features identification engine is configured to identify genomic features in the aligned genomic fragment sequences. The display is communicatively connected to the computing device and configured to display a report containing the identified genomic features.