Sentences with phrase «somatic variants»

While these variants are all determined in comparison to the human genome reference, genomes submitted for the Cancer Sequencing Service are additionally analyzed for somatic variants called in comparison to the baseline genome within the submitted pair or trio.

I'm also the lead developer of VarScan, an open - source tool for germline and somatic variant calling in NGS data, and MendelScan, an open - source tool for prioritizing variants in family - based sequencing studies.

For example, here's a putative somatic variant in TP53:

The whole genome and RNA sequencing data were analyzed by a team of bioinformaticians and oncologists at the NYGC as well as a beta version of IBM Watson for Genomics, an automated system for prioritizing somatic variants and identifying potential therapies.

The CNAG provides robust state of the art data analysis pipelines for Mendelian disease gene discovery, complex disease gene identification, somatic variant identification, de novo genome assembly, differential gene expression, identification of novel spliced isoforms, cytosine - methylation analysis and epigenetic analysis among others.

These consensus recommendations are intended to assist clinical laboratories with the validation and ongoing monitoring of NGS testing for detection of somatic variants and to help ensure high quality results.

What happens next, at least at WashU, is the culmination of a multiple - year effort to develop a comprehensive pipeline for detecting somatic variants.

Also, due to the high - priority of say, validating somatic variants in a tumor sample with 454 sequencing, we wanted something that could leverage faster aligners — parallelized BLAT for 454 and Bowtie for Illumina.

The platform contains over 10,000 somatic variants curated for oncogenicity, 100 genes curated for druggability in multiple cancer types and 500 drugs curated for evidence in multiple cancer types.

Using the latest version in Next - Generation Sequencing (NGS) chemistry, MyAML identifies all somatic mutations, large and small insertions / deletions and translocations under NCCN / ELN guidelines, as well as novel somatic variants that may have prognostic significance for AML.

BaseSpace also includes Illumina data analysis apps for exome, transcriptome, whole - genome, and somatic variant calling.

In general, it's because by screening for somatic variants, we remove all of the variants that are most likely to be real.

Intriguingly, the somatic variants were detected in the germline sample as well at frequencies of 5 - 13 %, suggesting that the skin sample was contaminated by a small fraction of leukemic cells.

In contrast to germline variants, somatic variants are not propagated to the whole individual but to a subpopulation of cells in the body, with the final consequence that adult human tissues are a mosaic of genetically different cells.