Sentences with phrase «copy number analysis»

Transcriptome and copy number analysis showed that the tumor had loss of PTEN and down - regulation of SMAD4.

Wang Z, Andrews P, Kendall J, Ma B, Hakker I, Rodgers L, Ronemus M, Wigler M, Levy D. SMASH, a fragmentation and sequencing method for genomic copy number analysis.

Not exact matches

The number of subsequent copies made is irrelevant to this analysis for the simple reason that copying a lie 1,00,000,000 times won't make it true.

This is Dr. Pengfei Liu holding human DNA treated with fluorescent dyes prepared for copy number variant analysis.

Analysis of CTC numbers at the different time points showed that the one measurement that was statistically significantly associated with progression - free survival was a change in the number of CTCs with ALK copy number gain over time.

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).

Results from the analysis confirmed previous findings of some copy number variants already associated with autism, but they also found a host of other genes (SHANK2, SYNGAP1, DLGAP2 and the X chromosome — linked DDX53 - PTCHD1 locus) in which mutations seem to be linked to autism.

The few studies that have included analysis of ribosomal DNA thus far have shown that the number of copies of the repetitive sequences expand and contract all the time.

The analysis suggests that about 1,000 copy number variations exist in each person, spanning at least 1 percent of the genome.

Although Robinson says his field «has a large number of people who don't like computers,» and who are suspicious of the analysis, he says others are picking up the technique, including a group in Germany hoping to analyze 5000 copies of the Greek New Testament, and another group working on Dante's Divine Comedy.

Integrated detection and population - genetic analysis of SNPs and copy number variation.

The authors next took 997 tumors in the discovery set, integrated copy number and gene expression data, and performed clustering analyses to identify subgroups of tumors with distinct features and clinical outcomes.

These new data suggest that transcriptome analysis can be used as a tool to predict the protein copy numbers per cell.

NextGENe software contains analysis modules for SNP / INDEL resequencing and amplicon analysis and Structural Variant Detection; Whole Genome Alignment; Prediction and Rare Disease Discovery; Copy Number Variation (CNV); RNA - Seq and Alternative Splicing; small RNA and ChIP - Seq Expression Analysis; Metagenomics; de novo aanalysis modules for SNP / INDEL resequencing and amplicon analysis and Structural Variant Detection; Whole Genome Alignment; Prediction and Rare Disease Discovery; Copy Number Variation (CNV); RNA - Seq and Alternative Splicing; small RNA and ChIP - Seq Expression Analysis; Metagenomics; de novo aanalysis and Structural Variant Detection; Whole Genome Alignment; Prediction and Rare Disease Discovery; Copy Number Variation (CNV); RNA - Seq and Alternative Splicing; small RNA and ChIP - Seq Expression Analysis; Metagenomics; de novo aAnalysis; Metagenomics; de novo assembly.

Although their copy - number methods are based on «read» density, there are classes of mutations that require analysis at the level of the read.

SNP & Variation Suite offers a complete set of tools for processing raw intensity data, identifying regions of copy number variation (CNV), visualizing copy number data, and performing association analyses on a variety of copy number covariates.

Quantitative PCR analysis of 16S rRNA gene copy numbers.

Next - generation sequencing and copy number variant analysis for 234 genes for epilepsy and associated syndromes.

DECIPHER aids clinical interpretation of these rare sequence and copy - number variants by providing tools for variant analysis and identification of other patients exhibiting similar genotype — phenotype characteristics.

We aim to push its limits on all fronts to establish a technique which combines nanometre 3D resolution with maximum labelling efficiencies, absolute measurements of protein copy numbers, precise multi-colour measurements, high - throughput for large scale statistics and novel data analysis approaches, to address the vast array of exciting biological questions at the nanoscale, which are becoming accessible only now.

DNA copy - number analysis of cfDNA of patient 2 identified single copy loss at the BRCA2 locus (Supplementary Fig.

There's also a lot of work under way for TCGA, not just the 6K capture project, but also adjunct analyses of gene expression, DNA copy number, microRNA, and DNA methylation data being generated on TCGA samples.

This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence vaAnalysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence vaanalysis of sequence variation.

By performing a meta - analysis of rare coding variants in whole - exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes previously identified as having a near - complete depletion of loss - of - function variants.

Our study demonstrates how rare tumour suppressors can be identified through copy number meta - analysis.

In this work we use high - resolution analysis of copy number, and analysis of segregation in trios, to define new, independent allelic series of amylase CNVs in sub-Saharan Africans, including a series of higher - order expansions of a unit consisting of one copy each of AMY1, AMY2A and AMY2B.

Joey then followed up with an analysis of DNA copy number data derived from the same primary melanoma tumours.

Biases in coverage distribution, like the GC bias, are problematic, especially in analyses focusing on fragment abundance (e.g., copy number estimation, RNA - seq), but are also of importance for DNA sequencing, where variants in GC - rich and GC - poor regions might be missed due to low coverage.

In 2010, the company launched new applications for the system to support microRNA analysis and copy number variation detection, and in 2013 launched Prosigna ®, its first in vitro diagnostic product for prognosis of early stage breast cancer.

DLGAP2, the other gene listed in the accompanying graphic, has also been implicated in the development of autism in a copy number variation (CNV) analysis of people with ASD.

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).

INCLUDES: 36 Student Activity Books (1 copy of each of the six titles per grade level, 32 - pages each) 4 Answer Cases 1 Teacher Guide FEATURES: Flexibility for task centers, independent or partner work, or one - on - one tutoring / remediation Clearly stated objective for each activity that allows you to differentiate Focus on foundational skills and concepts Engaging puzzle format for a fun challenge Immediate feedback for self - checking Titles: Grade 1: Number and Operations: Counting and Place Value Addition and Subtraction: Properties and Situations Addition and Subtraction: Strategies and Equations Addition and Subtraction: Beyond 20 Measurement and Data: Length, Time, and Analysis Geometry: Shapes and Attributes Grade 2: Addition and Subtraction: To 20 and Beyond Foundations of Multiplication: Equal Groups and Arrays Addition and Subtraction: Properties and Place Value Measurement and Data: Length, Time, and Analysis Measurement and Data: Time, Money, and Analysis Geometry: Shapes and Attributes Grade 3: Number and Operations: Multiply and Divide Multiply and Divide: Problem Solving Fractions: Fractions as Numbers Measurement and Data: Use and Interpret Data Geometric Measurement: Perimeter and Area Geometry: Shapes and Attributes Grade 4: Number and Operations: Whole Numbers Number and Operations Multi-Digit and Fractions Fractions: Equivalence and Ordering Fractions: Operations Measurement and Data: Convert and Solve Problems Geometry: Angles and Plane Figures Grade 5: Operations and Algebraic Thinking: Expressions and Patterns Number and Operations: Whole Numbers and Decimals Fractions: Add and Subtract Measurement and Data: Convert and Interpret Geometric Measurement: Volume Geometry: Graphing and 2 - D Figures Grade 6: Ratio and Proportions: Ratios and Problem Solving The Number System: Rational Numbers The Number System: Factors and Multiples Expressions and Equations: Write, Solve, and Analyze Geometry: Problem Solving Statistics and Probability: Variability and Displays

INCLUDES: 6 Student Activity Books (1 copy of each title, 32 - pages each) 2 Answer Cases 1 Teacher Guide FEATURES: Flexibility for task centers, independent or partner work, or one - on - one tutoring / remediation Clearly stated objective for each activity that allows you to differentiate Focus on foundational skills and concepts Engaging puzzle format for a fun challenge Immediate feedback for self - checking Level 1 Titles: Number and Operations: Counting and Place Value Addition and Subtraction: Properties and Situations Addition and Subtraction: Strategies and Equations Addition and Subtraction: Beyond 20 Measurement and Data: Length, Time, and Analysis Geometry: Shapes and Attributes

One DNA profiling technique that recently received media coverage is known as Low Copy Number (LCN) DNA analysis.

Last December, the Association of Chief Police Officers (ACPO) recommended a suspension of low copy number DNA analysis in criminal cases after a judge in the trial of the alleged Omagh bomber expressed concern at the scientific validity and possibility of cross-contamination of the technique.

Genome - wide association analysis of copy number variation in recurrent depressive disorder.