Title:
WHOLE GENOME SEQUENCING OF A HUMAN FETUS
Document Type and Number:
WIPO Patent Application WO/2013/177581
Kind Code:
A3
Abstract:
Methods of genome sequencing of a fetus are provided herein. In some embodiments, such methods include steps of predicting inheritance or transmission of an allele from one or more maternal-only heterozygous sites from a maternal genomic sequence to a fetal genome sequence; and predicting inheritance or transmission of an allele from one or more paternal-only heterozygous sites from a paternal genomic sequence to a fetal genome sequence. In some embodiments, the methods may also include predicting transmission of one or more genomic variants at one or more heterozygous sites that are present on both a maternal genomic sequence and a paternal genomic sequence. According to these embodiments, the paternal genomic sequence and the maternal genomic sequence are derived from a biological sample containing DNA. According to other embodiments, the sequencing methods may include a step of predicting de novo mutations in a fetal genomic sequence.
Inventors:
SHENDURE JAY ASHOK (US)
KITZMAN JACOB OTTO (US)
SNYDER MATTHEW (US)
KITZMAN JACOB OTTO (US)
SNYDER MATTHEW (US)
Application Number:
PCT/US2013/042774
Publication Date:
June 26, 2014
Filing Date:
May 24, 2013
Export Citation:
Assignee:
UNIV WASHINGTON CT COMMERCIALI (US)
International Classes:
G01N33/48; C12Q1/68; G01N33/50
Domestic Patent References:
| WO2011041485A1 | 2011-04-07 |
Foreign References:
| US20110105353A1 | 2011-05-05 | |||
| US20070184467A1 | 2007-08-09 | |||
| US20090098547A1 | 2009-04-16 | |||
| US20120122701A1 | 2012-05-17 | |||
| US20100273165A1 | 2010-10-28 | |||
| US20080020390A1 | 2008-01-24 |
Other References:
LO ET AL.: "Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus", SCI TRANSL MED., vol. 2, no. 61, 8 December 2010 (2010-12-08), pages 61RA91
KLITZMAN ET AL.: "Haplotype-resolved genome sequencing of a Gujarati Indian individual.", NAT BIOTECHNOL., vol. 29, no. 1, 19 December 2010 (2010-12-19), pages 59 - 63
CONRAD ET AL.: "Variation in genome-wide mutation rates within and between human families.", NAT GENET., vol. 43, no. 7, 12 June 2011 (2011-06-12), pages 712 - 4
KITZMAN ET AL.: "Noninvasive whole-genome sequencing of a human fetus.", SCI TRANSL MED., vol. 4, no. 137, 6 June 2012 (2012-06-06), pages 137RA76
KLITZMAN ET AL.: "Haplotype-resolved genome sequencing of a Gujarati Indian individual.", NAT BIOTECHNOL., vol. 29, no. 1, 19 December 2010 (2010-12-19), pages 59 - 63
CONRAD ET AL.: "Variation in genome-wide mutation rates within and between human families.", NAT GENET., vol. 43, no. 7, 12 June 2011 (2011-06-12), pages 712 - 4
KITZMAN ET AL.: "Noninvasive whole-genome sequencing of a human fetus.", SCI TRANSL MED., vol. 4, no. 137, 6 June 2012 (2012-06-06), pages 137RA76
Attorney, Agent or Firm:
DUEPPEN, Lara, J. (P.O. Box 1208Seattle, WA, US)
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