Rosetta Genomics Ltd.

Tel Hashomer Medical Research Infrastructure and Services Ltd.

Cancer Research Technology Limited

Tel Hashomer Medical Infrastructure and Services Ltd.

Nitzan Rosenfeld

Shai Rosenwald

Ranit Aharonov

Hila Benjamin

Yael Spector

Eddie Friedman

Zohar Dotan

Muhammed Murtaza

Nir Dromi

Tim Forshew

Dvora Nass

Francesco Marass

Iris Barshack

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.

Method for detecting a genetic variant

The present invention provides nucleic acid sequences that are used for identification, classification and diagnosis of specific types of cancers. The nucleic acid sequences can also be used for prognosis evaluation of a subject based on the expression pattern of a biological sample.

Diagnosis and prognosis of various types of cancers

The present invention provides a process for classification of specific cancers and tumors origin through the analysis of the expression patterns of specific microRNAs and nucleic acid molecules relating thereto. Classification according to a microRNA expression framework allows optimization of treatment, and determination of specific therapy.

MicroRNAs expression signature for determination of tumors origin

The present invention provides a method for classification of kidney tumors through the analysis of the expression patterns of specific microRNAs and nucleic acid molecules relating thereto. Classification according to a microRNA expression framework allows optimization of treatment, and determination of specific therapy.

Gene expression signature for classification of kidney tumors

The present invention provides nucleic acid sequences that are used for identification and diagnosis of specific cancers. The nucleic acid sequences can also be used for prognosis evaluation of a subject based on the expression profile of a biological sample.

Compositions and methods for the diagnosis and prognosis of mesothelioma

The present invention provides a process for classification of cancers and tissues of origin through the analysis of the expression patterns of specific microRNAs and nucleic acid molecules relating thereto. Classification according to a microRNA tree-based expression framework allows optimization of treatment, and determination of specific therapy.

Gene expression signature for classification of tissue of origin of tumor samples

The present invention provides nucleic acid sequences that are used for identification, classification and diagnosis of specific types of nonsmall-cell lung cancers (NSCLC). The nucleic acid sequences can also be used for prognosis evaluation of a subject based on the expression pattern of a biological sample.

Growing community of inventors

Rehovot, Israel

Nitzan Rosenfeld