Sentences with phrase «number alterations»

In other words, acquired copy number alterations influence the expression of genes within them or nearby.

The number and extent of copy number alterations, too, followed this trend.

There are well - characterized, recurrent copy number alterations in cancer, like EGFR amplification on chromosome 7.

Using clinical, genetic, and gene expression data as filters to distinguish genes whose copy number alteration causes cancer from those for whom copy number changes are incidental, the team whittled down their list from 14,000 to a more manageable number, each of which they systematically tested using genetic experiments in animals.

We developed VarScan 2 for somatic mutation and copy number alteration calling in exome data for tumor - normal pairs.

He led the Broad Institute's effort to analyze somatic DNA copy number alterations for The Cancer Genome Atlas (TCGA) and is now co-principal investigator of the Broad Institute's copy number Genome Data Analysis Center for the National Cancer Institute's Genomic Data Analysis Network (GDAN).

There was strong - evidence of such patterns on chromosomes 1q, 7p, 8, 11q, 14q, 16, 17q, and 20q, all of which are the targets of frequent large - scale copy number alteration in breast cancer.

40) Lockwood WW †, Coe BP, Williams AC, MacAulay C, Lam WL (2007) Whole genome tiling path array CGH analysis of segmental copy number alterations in cervical cancer cell lines.

This change, known as somatic copy - number alterations, may be key to disease progression and might offer new therapeutic approaches for ovarian cancer and other malignancies.

Through their analysis, the researchers determined the genetic alterations found in both the primary tumors and the metastases frequently were a type of genetic abnormality called a copy number alteration, which is when sections of DNA are repeated (i.e. duplicated).

In this study, researchers assessed the outcomes of 280 prostate cancer (Cap) patients, and reviewed the DNA «fingerprints» of each patient's tumor (using the patient's initial diagnostic core biopsy) to determine if gene copy number alterations (CNAs), or breaks in CFSs, were related to a less positive response to treatment.

The second is chromosomal complexity, which reflects how much of the genome in the cancer cells has copy - number alterations.

Exome sequencing to find point mutations may not be enough, as we know that copy - number alterations may lead to altered expression levels, or aberrant methylation may cause dysregulation.

Most endometrioid tumors, by contrast, have few copy number alterations or mutations in TP53, though there are frequent mutations in other well known cancer - associated genes, including PTEN, another tumor suppressor gene, and KRAS, a gene involved in regulating cell division.

In this study, the authors assessed the impact of SNPs, inherited copy number variants (CNVs), and acquired copy number alterations (CNAs) on the gene expression landscape.

The hypermutated microsatellite instability group exhibited a high mutation rate, as well as few copy number alterations, but did not carry mutations in the POLE gene.

This subtype displayed copy number alterations and a mutation landscape that was characteristic of serous tumors.

In this study, investigators showed that approximately 25 percent of tumors that pathologists classified as high - grade endometrioid showed frequent mutations in TP53, a tumor suppressor gene, as well as extensive copy number alterations, a term for when a cell has too many or too few copies of a genomic segment.

ETP - ALL tumors exhibit an unusually high burden of DNA copy number alterations, but no unifying genetic have been identified.

Applications in proteogenomics include discovery of novel protein coding regions to improve genome annotation; detection of variant and mutated proteins based on DNA and / or RNA sequence data; discovery of cancer neoantigens and evaluation of the impact of genomic changes (e.g. copy number alterations, SNPs, mutations, hyper methylation) on the proteome.

Another key finding of this study is the substantial contribution of large variants (copy number alterations and structural variants), which are often missed by exome sequencing.

About 90 % of solid tumors display whole - chromosome aneuploidy, while many tumors with diploid karyotypes nonetheless harbor segmental or arm - length aneuploidies that also result in significant gene copy number alterations.

Variations in the genetic code, from single point mutations to large structural or copy number alterations, influence susceptibility, onset, and progression of genetic diseases and tumor transformation.

These three chromosome arms harbor well - known oncogenes and tumor suppressor genes that have been shown to undergo copy number alterations in many cancers, including BC (Vogelstein et al., 2013).