Optimierter Belastungstest auf Basis von Verschachtelten T-Tests zur Maximierung der Trennung zwischen Trägern und Nichtträgern

Details

Veröffentlichungs-Nr.

EP4742250

Anmeldetag

28. Dezember 2022

Veröffentlichung

13. Mai 2026

Rechtsraum

EP

IPC

G16B40/20(ANDREASSEN OLE A et al.)

Abstract

A computer-implemented method of performing an optimized burden test for a particular gene, in which an optimal combination of a maximum allele count and a minimum pathogenicity score threshold that maximize significance of burden testing for rare deleterious variants are determined using a grid search protocol. Each combination of maximum allele count and minimum pathogenicity score threshold is tested with a t-test to obtain effect size and p-value. The combination of allele count and pathogenicity score threshold with the most significant p-value is selected as the optimal parameters for the rare deleterious variant burden test for a particular gene.

Anmelder

Firma

ILLUMINA, INC.

Land

🇺🇸 USA