Life Technologies Corporation

Seth Sadis

Paul Williams

Daniel Rhodes

Peter Wyngaard

Nikolay Khazanov

Jia Li

Santhoshi Bandla

Mark Tomilo

Sean Eddy

Emma Bowden

Fiona Hyland

Jian Gu

Kelli Bramlett

Rajesh Gottimukkala

Jeoffrey Schageman

Paul Douglas Williams

Amir Marcovitz

Varun Bagai

James Veitch

Armand Bankhead

Dinesh Cyanam

Scott Myrand

Douglas Ross

A method for detecting a gene fusion includes amplifying a nucleic acid sample in the presence of primer pool to produce a plurality of amplicons. The primer pool includes primers targeting a plurality of exon-exon junctions of a driver gene. The amplicons correspond to the exon-exon junctions. The amplicons are sequenced and aligned to a reference sequence. The number of reads corresponding to each amplicon is normalized to give a normalized read count. A baseline correction is applied to the normalized read counts for the amplicons to form corrected read counts. A binary segmentation score is calculated for each corrected read count. A predicted breakpoint for the gene fusion is determined based on the amplicon index corresponding to the maximum absolute binary segmentation score. Gene fusion events may be detected in a partner agnostic manner, i.e. without prior knowledge of the specific fusion partner genes or specific breakpoint information.

Methods for partner agnostic gene fusion detection

The disclosure provides gene fusions, gene variants, and novel associations with disease states, as well as kits, probes, and methods of using the same.

Gene fusions and gene variants associated with cancer

Methods for predicting clinical outcome for a human subject diagnosed with squamous cell lung carcinoma using a panel of molecular markers that includes CDKN2A and CCND1. The markers are related to the subject's increased likelihood of a negative clinical outcome.

Prognostic assay for squamous cell lung carcinoma

The disclosure provides gene fusion variants and novel associations with disease states, as well as kits, probes, and methods of using the same.

Gene fusion

Growing community of inventors

Ann Arbor, MI, United States of America

Seth Sadis