Jonathan David Packer

US Patent:

20160342733, Nov 24, 2016

Filed:

May 18, 2015

Appl. No.:

14/714949

Inventors:

- Tarrytown NY, US
Lukas Habegger - Stamford CT, US
Jonathan Packer - Hartsdale NY, US
Evan Maxwell - Danbury CT, US

International Classification:

G06F 19/22
C12Q 1/68

Abstract:

Methods and systems for determining copy number variants are disclosed. An example method can comprise applying a sample grouping technique to select reference coverage data, normalizing sample coverage data comprising a plurality of genomic regions, and fitting a mixture model to the normalized sample coverage data based on the selected reference coverage data. An example method can comprise identifying one or more copy number variants (CNVs) according to a Hidden Markov Model (HMM) based on the normalized sample coverage data and the fitted mixture model. An example method can comprise outputting the one or more copy number variants.