US 12,353,371 B2
Assessing quality of genomic regions studied for inclusion in standardized clinical formats
Alexander Ryan Mankovich, Somerville, MA (US)
Assigned to KONINKLIJKE PHILIPS N.V., Eindhoven (NL)
Filed by KONINKLIJKE PHILIPS N.V., Eindhoven (NL)
Filed on Dec. 2, 2022, as Appl. No. 18/073,863.
Claims priority of provisional application 63/285,684, filed on Dec. 3, 2021.
Claims priority of application No. 21217876 (EP), filed on Dec. 27, 2021.
Prior Publication US 2023/0177028 A1, Jun. 8, 2023
Int. Cl. G06F 16/215 (2019.01); G06F 16/25 (2019.01); G16B 30/00 (2019.01); G16B 50/10 (2019.01)
CPC G06F 16/215 (2019.01) [G06F 16/258 (2019.01); G16B 30/00 (2019.02); G16B 50/10 (2019.02)] 16 Claims
OG exemplary drawing
 
1. A method for assessing quality of genomic regions studied for inclusion in standardized clinical formats, the method comprising:
receiving data sets for a plurality of gene panels;
applying, by a processor executing instructions, standardized quality control metrics to the data sets for the plurality of gene panels;
filtering, by the processor executing the instructions, each of the data sets for the plurality of gene panels to sets of variants that do not meet the standardized quality control metrics, and formatting the sets of variants in a clinical format, and
outputting the sets of variants resulting from the filtering to a downstream application.