Methods and systems for non-invasive pre-implantation genetic diagnosis (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 genome sequencer, computing device and display. The genome sequencer is configured to obtain sequence information from grafted genomic segments derived from embryonic candidates. The conjugated genomic segments include at least one genomic segment from an embryo candidate and at least one genomic linker segment. The computing device is communicatively coupled to the genome sequencer and includes a sequence alignment engine and a genome feature identification engine. The sequence alignment engine is configured to subtract sequence information related to the genomic linker segment portion of the conjugated genomic segment and to align genomic segment sequences to a reference genome. The genome feature identification engine is configured to identify genomic features in aligned genome segment sequences. The display is configured to be communicatively coupled to the computing device and to display a report containing the identified genomic features.