United States Patent
`(12)
`(10) Patent No.:
`US 9,598,731 B2
`
`Talasaz
`(45) Date of Patent:
`Mar. 21, 2017
`
`US009598731B2
`
`(54) SYSTEMS AND METHODS TO DETECT
`RARE MUTATIONS AND COPY NUMBER
`VARIATION
`.
`(71) Apphcant: GUARDANT HEALTH, INC.,
`Redwood City, CA (US)
`
`(72)
`
`Inventor: AmirAli Talasaz, Menlo Park, CA (US)
`
`(73) Assignee: Guardant Health, Inc., Redwood City,
`CA (US)
`
`( * ) Notice:
`
`Subject. to any disclaimer, the term ofthis
`patent 1s extended or adjusted under 35
`U.S.C. 154(b) by 0 days.
`
`(21) Appl. No.: 14/712,754
`
`(22)
`
`Filed:
`
`May 14, 2015
`
`(65)
`
`Prior Publication Data
`US 2015/0299812 A1
`Oct. 22, 2015
`
`Related US. Application Data
`
`5,654,413 A
`22233; 2
`5:714:330 A
`5,744,305 A
`5,759,778 A
`5,763,175 A
`5,800,992 A
`5,846,719 A
`5,854,033 A
`
`5,871,928 A
`5,925,525 A
`5,935,793 A
`2:32:93 2
`5,981,176 A
`5,981,179 A
`6,013,445 A
`6,020,124 A
`6,040,138 A
`
`6,046,005 A
`
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`(63) Continuation of application No. 14/425,189, filed as
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`(Contmued)
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`OTHER PUBLICATIONS
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`(60) Provisional application No. 61/845,987, filed on Jul.
`13, 2013, provisional application No. 61/793,997,
`filed on Mar. 15, 2013, provisional application No.
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`Int. Cl.
`C12P 19/34
`C12Q 1/68
`C12N 15/10
`G06F 19/22
`(52) US. Cl.
`CPC ~~~~~~~ CIZQ ”6874 (201301); CIZN 15/1065
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`G06F 19/22 (2013.01); CIZQ 2600/118
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`(58) Field of Classification Search
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`
`Primary Examiner 7 Kenneth Horlick
`(74) Attorney, Agent, or Firm 7 Wilson Sonsini Goodrich
`& Rosati
`
`(57)
`
`ABSTRACT
`
`The present disclosure provides a system and method for the
`detection of rare mutations and copy number variations in
`cell free polynucleotides. Generally, the systems and meth-
`ods comprise sample preparation, or the extraction and
`isolation of cell free polynucleotide sequences from a bodily
`fluid; subsequent sequencing of cell free polynucleotides by
`techniques known in the art; and application of bioinfor-
`matics tools to detect rare mutations and copy number
`variations as compared to a reference. The systems and
`methods also may contain a database or collection of dif-
`ferent rare mutations or copy number variation profiles of
`different diseases, to be used as additional references in
`aiding detection of rare mutations, copy number variation
`profiling or general genetic profiling of a disease.
`
`17 Claims, 16 Drawing Sheets
`
`PGDX EX. 1007
`
`Page 1 0f 55
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`PGDX EX. 1007
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`US 9,598,731 B2
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