Leland Stanford Junior University

Konrad Karczewski

Michael P Snyder

Atul J Butte

Wing H Wong

Nicholas Johnson

Joel T Dudley

Julie Park

Hua Tang

Eurie Hong

Jennifer Li-Pook Than

Alan Boyle

J Michael Cherry

Measuring of the binding of a transcription factor (using, for example, chromatin immunoprecipitation) according to the present invention is provides an improved marker for a disease. These markers can be used in diagnostics for diseases where a transcription factor binding event plays a role. Additionally, they can be used to adjust disease risk profiles for healthy individuals as with typical genetic variants.

Method and system for the use of biomarkers for regulatory dysfunction in disease

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.

Method and system for phasing individual genomes in the context of clinical interpretation

Growing community of inventors

Stanford, CA, United States of America

Konrad Karczewski