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BR112012010694A2 - métodos para determinar pelo menos uma porção do genoma de um feto não nascido de uma fêmea grávida, para identificar uma mutação de novo no genoma de um feto não nascido de uma fêmea grávida, para determinar uma concentração fracionária de dna fetal em uma amostra biológica tirada de uma fêmea grávida e para determinar uma proporção de um genoma fetal que foi sequenciado a partir de uma amostra biológica tirada de uma fêmea grávida - Google Patents

métodos para determinar pelo menos uma porção do genoma de um feto não nascido de uma fêmea grávida, para identificar uma mutação de novo no genoma de um feto não nascido de uma fêmea grávida, para determinar uma concentração fracionária de dna fetal em uma amostra biológica tirada de uma fêmea grávida e para determinar uma proporção de um genoma fetal que foi sequenciado a partir de uma amostra biológica tirada de uma fêmea grávida

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Publication number
BR112012010694A2
BR112012010694A2 BR112012010694A BR112012010694A BR112012010694A2 BR 112012010694 A2 BR112012010694 A2 BR 112012010694A2 BR 112012010694 A BR112012010694 A BR 112012010694A BR 112012010694 A BR112012010694 A BR 112012010694A BR 112012010694 A2 BR112012010694 A2 BR 112012010694A2
Authority
BR
Brazil
Prior art keywords
pregnant female
genome
fetal
biological sample
sample taken
Prior art date
Application number
BR112012010694A
Other languages
English (en)
Other versions
BR112012010694B1 (pt
BR112012010694B8 (pt
Inventor
Cantor Charles
Chee Chan Kwan
Kwun Rossa Chiu Wai
Ming Dennis Lo Yuk
Original Assignee
Sequenom Inc
Univ Hong Kong Chinese
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
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Publication date
Application filed by Sequenom Inc, Univ Hong Kong Chinese filed Critical Sequenom Inc
Publication of BR112012010694A2 publication Critical patent/BR112012010694A2/pt
Publication of BR112012010694B1 publication Critical patent/BR112012010694B1/pt
Publication of BR112012010694B8 publication Critical patent/BR112012010694B8/pt

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Abstract

"métodos para determinar pelo menos uma porção do genoma de um feto não nascido de uma fêmea grávida, para identificar uma mutação de novo genoma de um feto não nascido de uma fêmea grávida, para determinar uma concentração fracionária de dna fetal em uma amostra biológica tirada de uma fêmea grávida e para determinar uma proporção de um genoma fetal que foi sequenciado a partir de uma amostra biológica tirada de uma fêmea grávida" sistemas, métodos, e aparelho para determinar pelo menos uma porção de genoma fetal são fornecidos. os fragmentos de dna de uma amostra materna (dna materno e fetal) podem ser analisados para identificar alelos em certos locais. as quantidades de fragmentos de dna dos respectivos alelos nestes locais podem ser analisados juntas para determinar quantidades relativas dos haplotipos para estes locais e determinar quais haplotipos foram herdados dos genomas dos pais. locais onde os pais são uma combinação específica de homozigoto e heterozigoto podem ser analisados para determinar regiões do genoma fetal. os haplotipos de referência comuns na população podem ser usados juntos como a análise dos fragmentos de dna da amostra materna para determinar os genomas materno e paterno. a determinação de mutações, uma concentração de dna fetal fracionário em uma amostra materna, e uma proporção de cobertura de um sequenciamento da amostra materna também podem ser fornecidos.
BR112012010694A 2009-11-05 2010-11-05 método para determinar pelo menos uma porção do genoma de um feto não nascido de uma fêmea grávida, e, meio legível por computador não transitório BR112012010694B8 (pt)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US25856709P 2009-11-05 2009-11-05
US61/258567 2009-11-05
US25907509P 2009-11-06 2009-11-06
US61/259075 2009-11-06
US38185410P 2010-09-10 2010-09-10
US61/381854 2010-09-10
PCT/US2010/055655 WO2011057094A1 (en) 2009-11-05 2010-11-05 Fetal genomic analysis from a maternal biological sample

Publications (3)

Publication Number Publication Date
BR112012010694A2 true BR112012010694A2 (pt) 2018-09-11
BR112012010694B1 BR112012010694B1 (pt) 2020-11-17
BR112012010694B8 BR112012010694B8 (pt) 2021-07-27

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US (5) US8467976B2 (pt)
EP (5) EP4170043A1 (pt)
JP (3) JP5540105B2 (pt)
CN (2) CN102770558B (pt)
AU (1) AU2010315037B9 (pt)
BR (1) BR112012010694B8 (pt)
CA (1) CA2779695C (pt)
CY (1) CY1122003T1 (pt)
DK (3) DK2496717T3 (pt)
EA (1) EA033752B1 (pt)
ES (3) ES2934941T3 (pt)
FI (1) FI3783110T3 (pt)
HK (1) HK1222413A1 (pt)
HR (2) HRP20230134T1 (pt)
HU (3) HUE034854T2 (pt)
IL (3) IL219521A (pt)
LT (2) LT3783110T (pt)
MX (3) MX355132B (pt)
PL (3) PL2496717T3 (pt)
PT (3) PT2496717T (pt)
RS (2) RS58879B1 (pt)
SI (2) SI3783110T1 (pt)
TW (1) TWI458976B (pt)
WO (1) WO2011057094A1 (pt)

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