Systems and methods for joint low-coverage whole genome sequencing and whole exome sequencing inference of copy number variation for clinical diagnostics
Номер патента: EP4275208A1
Опубликовано: 15-11-2023
Автор(ы): Francisco M. De La Vega
Принадлежит: Tempus Labs Inc
Опубликовано: 15-11-2023
Автор(ы): Francisco M. De La Vega
Принадлежит: Tempus Labs Inc
Реферат: 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 0.5X to 5X 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.
Computer System and Computer-Facilitated Method for Nucleic Acid Sequence Alignment and Analysis
Номер патента: US20090292665A1. Автор: Bobi Den Hartog. Владелец: Mitotech LLC. Дата публикации: 2009-11-26.