Patent · US Active

Automatic processing of electronic files to identify genetic variants

US12014281B2 · kind B2 · utility

0Cited by

2References

20Claims

0Family size

Inventors

Elinor Dehan · New York, US
Bhuvan Sharma · Belmont, US
Claudia S. Huettner · Brookline, US
Kirk A. Beaty · Somers, US
Shang Xue · Cambridge, US
Himanshu Sharma · Issaquah, US

Key dates

Filing date	Nov 19, 2020
Grant date	Jun 18, 2024
Priority date	—
Expiry date	Apr 20, 2043

Classification

Technology area (CPC G)Physics
CPC primaryG06N20/00
WIPO fieldMedical technology
WIPO sectorInstruments

Abstract

A mechanism is provided for processing electronic files to identify genetic variants of a gene. Evidence of one or more genetic variants of the gene and corresponding information is extracted from a corpus of information. Each genetic variant of the one or more genetic variants is classified based on whether the genetic variant is identified as being pathogenic. Genetic variant annotation is then performed to generate a summary.

Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.