The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Mar. 27, 2018
Filed:
Jun. 01, 2012
Hua Tang, Stanford, CA (US);
Michael Snyder, Stanford, CA (US);
Jennifer Li-pook Than, Menlo Park, CA (US);
Konrad J. Karczewski, Stanford, CA (US);
Nicholas Johnson, Palo Alto, CA (US);
Wing H. Wong, Stanford, CA (US);
Hua Tang, Stanford, CA (US);
Michael Snyder, Stanford, CA (US);
Jennifer Li-Pook Than, Menlo Park, CA (US);
Konrad J. Karczewski, Stanford, CA (US);
Nicholas Johnson, Palo Alto, CA (US);
Wing H. Wong, Stanford, CA (US);
The Board of Trustees of the Leland Stanford Junior University, Stanford, CA (US);
Abstract
The present disclosure presents a unified system to phase a personal genome for downstream clinical interpretation. In an embodiment, an initial phasing is generated using public datasets, such as haplotypes from the 1000 Genomes Project, and a phasing toolkit. A local perturbation algorithm is applied to improve long range phasing. If available, a Mendelian inheritance pipeline is applied to identify phasing of novel and rare variants. These datasets are merged, followed by correction by any experimental data. This allows for full clinical interpretation of the role of a group of variants in a gene, whether inherited or de novo variants.