MX367963B - Métodos para detectar mutaciones raras y variación en el número de copias. - Google Patents

Métodos para detectar mutaciones raras y variación en el número de copias.

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Publication number
MX367963B
MX367963B MX2015002769A MX2015002769A MX367963B MX 367963 B MX367963 B MX 367963B MX 2015002769 A MX2015002769 A MX 2015002769A MX 2015002769 A MX2015002769 A MX 2015002769A MX 367963 B MX367963 B MX 367963B
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Mexico
Prior art keywords
copy number
rare mutations
systems
methods
number variation
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MX2015002769A
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English (en)
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MX2015002769A (es
Inventor
Amirali Talasaz
Helmy Eltoukhy
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Guardant Health Inc
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First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=50237580&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=MX367963(B) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by Guardant Health Inc filed Critical Guardant Health Inc
Publication of MX2015002769A publication Critical patent/MX2015002769A/es
Publication of MX367963B publication Critical patent/MX367963B/es

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    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
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Abstract

La presente invención se refiere a proporciona un sistema y método para la detección de mutaciones raras y variaciones en el número de copias en polinucleótidos libres de células. En general, los sistemas y métodos comprenden la preparación de la muestra, o la extracción y aislamiento de secuencias de polinucleótidos libres de células a partir de un fluido corporal; la subsecuente secuenciación de polinucleótidos libres de células por técnicas conocidas en la técnica; y la aplicación de herramientas bioinformáticas para detectar mutaciones raras y variaciones en el número de copias en comparación con una referencia. Los sistemas y métodos pueden contener una base de datos o colección de diferentes mutaciones o perfiles de variación en el número de copias de diferentes enfermedades, que se van a usar como referencias adicionales al ayudar en la detección de mutaciones raras, perfil de la variación en el número de copias o perfil genético general de una enfermedad.
MX2015002769A 2012-09-04 2013-09-04 Métodos para detectar mutaciones raras y variación en el número de copias. MX367963B (es)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201261696734P 2012-09-04 2012-09-04
US201261704400P 2012-09-21 2012-09-21
US201361793997P 2013-03-15 2013-03-15
US201361845987P 2013-07-13 2013-07-13
PCT/US2013/058061 WO2014039556A1 (en) 2012-09-04 2013-09-04 Systems and methods to detect rare mutations and copy number variation

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MX2015002769A MX2015002769A (es) 2015-08-14
MX367963B true MX367963B (es) 2019-09-11

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MX2015002769A MX367963B (es) 2012-09-04 2013-09-04 Métodos para detectar mutaciones raras y variación en el número de copias.

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US (25) US10041127B2 (es)
EP (5) EP3591073B1 (es)
JP (5) JP6275145B2 (es)
KR (5) KR20240007774A (es)
CN (2) CN110872617A (es)
BR (1) BR112015004847A2 (es)
CA (2) CA3190199A1 (es)
DE (1) DE202013012824U1 (es)
DK (1) DK2893040T5 (es)
ES (3) ES2711635T3 (es)
GB (1) GB2533006B (es)
HK (3) HK1201080A1 (es)
IL (3) IL305303A (es)
MX (1) MX367963B (es)
PL (2) PL3591073T3 (es)
PT (1) PT2893040T (es)
SG (2) SG11201501662TA (es)
WO (1) WO2014039556A1 (es)

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