WO2024157222 - METHOD FOR IDENTIFYING GENETIC VARIANT IN AN EMBRYO

National phase entry is expected:
Publication Number WO/2024/157222
Publication Date 02.08.2024
International Application No. PCT/IB2024/050754
International Filing Date 26.01.2024
Title **
[English] METHOD FOR IDENTIFYING GENETIC VARIANT IN AN EMBRYO
[French] PROCÉDÉ D'IDENTIFICATION D'UN VARIANT GÉNÉTIQUE DANS UN EMBRYON
Applicants **
EMBRYOME INC. 258 Major St. Toronto, Ontario M5S 2L6, CA
Inventors
VENNER, Eric 258 Major St. Toronto, Ontario M5S 2L6, CA
BAINBRIDGE, Matthew 258 Major St. Toronto, Ontario M5S 2L6, CA
GRUSCHOW, Jeremy 258 Major St. Toronto, Ontario M5S 2L6, CA
Priority Data
63/441,291   26.01.2023   US
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Quotation for National Phase entry

Country StagesTotal
China Filing2280
EPO Filing, Examination17694
Japan Filing587
South Korea Filing574
USA Filing, Examination8310
MasterCard Visa

Total: 29445

The term for entry into the National Phase has expired. This quotation is for informational purposes only

Abstract[English] The present disclosure provides, in part, a method of identifying a genetic variant in an embryo. The method comprising: (a) obtaining two or more sources of analytes from the embryo; (b) analyzing the two or more sources of analytes to obtain genetic information of each source; (c) comparing the genetic information of each source against one or more reference genome using at least one variant caller, wherein the variant caller identifies variant(s) between each source and the reference genome; and (d) combining the variant(s) to identify a difference that is present only from the sources, wherein the difference is a genetic variant in the embryo.[French] La présente divulgation propose, en partie, un procédé d'identification d'un variant génétique dans un embryon. Le procédé comprend : (a) l'obtention d'au moins deux sources d'analytes à partir de l'embryon; (b) l'analyse de ces sources d'analytes pour obtenir des informations génétiques de chaque source; (c) la comparaison des informations génétiques de chaque source par rapport à un ou plusieurs génomes de référence à l'aide d'au moins un appelant de variant, l'appelant de variant identifiant un ou plusieurs variants entre chaque source et le génome de référence; et (d) la combinaison du ou des variants pour identifier une différence qui est présente uniquement à partir des sources, la différence étant un variant génétique dans l'embryon..
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