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38results about How to "Solve the greater risk" patented technology

Method for Detecting a Genetic Variant

The present invention provides a method for detecting a genetic variant in a region of interest in a DNA sample comprising (i) determining, for a given sequencing platform, sequencing process and sequencing depth, the distribution of the number of reads supporting a genetic variant or plurality of genetic variants expected to be observed in the sequencing results of amplification reactions due to amplification and sequencing error (read count distribution); (ii) based on the read count distribution determined in step (i), establishing a threshold frequency at or above which the genetic variant must be observed in sequencing results of amplification reactions to assign a positive determination for the presence of the genetic variant in a given amplification reaction; (iii) partitioning the DNA sample into a plurality of replicate amplification reactions, so that the mean number of amplifiable template molecules of the region of interest in a replicate amplification reaction is fewer than the reciprocal of the threshold frequency determined in step (ii); (iv) performing the amplification reactions of step (iii) and sequencing the products of amplification reactions, (v) based on step (ii) and the results of step (iv), determining the presence/absence of the genetic variant in each replicate amplification reaction; and (vi) integrating the results of (v) to determine the presence/absence of the genetic variant in the region of interest in the DNA sample.
Owner:CANCER RES TECH LTD

Method for detecting a genetic variant

The present invention provides a method for detecting a genetic variant in a region of interest in a DNA sample comprising (i) determining, for a given sequencing platform, sequencing process and sequencing depth, the distribution of the number of reads supporting a genetic variant or plurality of genetic variants expected to be observed in the sequencing results of amplification reactions due to amplification and sequencing error (read count distribution); (ii) based on the read count distribution determined in step (i), establishing a threshold frequency at or above which the genetic variant must be observed in sequencing results of amplification reactions to assign a positive determination for the presence of the genetic variant in a given amplification reaction; (iii) partitioning the DNA sample into a plurality of replicate amplification reactions, so that the mean number of amplifiable template molecules of the region of interest in a replicate amplification reaction is fewer than the reciprocal of the threshold frequency determined in step (ii); (iv) performing the amplification reactions of step (iii) and sequencing the products of amplification reactions, (v) based on step (ii) and the results of step (iv), determining the presence / absence of the genetic variant in each replicate amplification reaction; and (vi) integrating the results of (v) to determine the presence / absence of the genetic variant in the region of interest in the DNA sample.
Owner:CANCER RES TECH LTD

Dosing regimen of activated protein c and variants having reduced anticoagulant activity

Recombinant activated protein C (APC) and APC variants with reduced anticoagulant activity were used to reduce mortality in murine models of sepsis. These models included endotoxemia and bacteremia models. We discovered that single or multiple bolus doses of APC, especially of APC variants such as RR230/231AA-APC, KKK192-194AAA-APC and 5A-APC (containing the combination of mutations present in the first two APC variants) given as a single bolus reduces 7-day mortality of mice given lethal doses of endotoxin. Administrations of a single bolus of 5A-APC after the initiation of sepsis also reduces mortality caused by LPS. 5A-APC with ≦8% of normal anticoagulant activity (which has reduced risk of bleeding) reduces mortality when given as two bolus administrations at 3 hours and then at 10 hours after initiation of bacterial infection, i.e. after onset of sepsis. This shows, first, that one or more bolus injections of APC or of APC variants, especially 5A-APC, can reduce mortality when given beginning hours after the onset of sepsis and, second, that it is not necessary to administer APC as a continuous infusion which is the current standard of practice because one or more bolus administrations can reduce mortality. Furthermore, dosages of approximately 0.06 to 0.4 mg/kg of APC and APC variants are identified to be sufficient to reduce mortality in sepsis.
Owner:VERSITI BLOOD RES INST FOUND INC +1
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