Methods for allele calling and ploidy calling

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United States of America Patent

PATENT NO 9639657
APP PUB NO 20130225422A1
SERIAL NO

13846111

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Abstract

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Disclosed herein is a system and method for making allele calls, and for determining the ploidy state, in one or a small set of cells, or where a limited quantity of genetic data is available. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed and the haplotypes are determined using expected similarities between the target genome and the knowledge of the genomes of genetically related individuals. In one embodiment, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the genetic data from both parents, and possibly one or more sperm and/or sibling embryos. In another embodiment, the chromosome copy number can be determined using the same input data. In another embodiment, these determinations are made for embryo selection during IVF, for non-invasive prenatal diagnosis, or for making phenotypic predictions.

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Patent Owner(s)

Patent OwnerAddress
NATERA INC201 INDUSTRIAL ROAD SUITE 410 SAN CARLOS CA 94070

International Classification(s)

Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Banjevic, Milena Los Altos Hills, US 133 8926
Gemelos, George New York, US 140 8372
Rabinowitz, Matthew San Francisco, US 234 14966
Ryan, Allison Redwood City, US 102 5169
Sweetkind-Singer, Joshua San Jose, US 33 2033

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