Sentences with phrase «novo copy number»

De novo copy number variants (dnCNVs) arising at multiple loci in a personal genome have usually been considered to reflect cancer somatic genomic instabilities.

Microarray studies and, more recently, exome sequencing have demonstrated the importance of de novo copy number variations (CNVs) and single - nucleotide variations (SNVs) in ID, but the majority of cases remains undiagnosed.

The researchers call this phenomenon multiple de novo copy number variants.

Not exact matches

As the name indicates, the copy number variants are many and new (de novo).

It is thought to be due to a complex interplay between polygenic and various environmental risk factors, although recent reports on genomic copy number variations suggest that a fraction of the cases could result from variably penetrant de novo variants.

«Rare de novo and transmitted copy number variation in autistic spectrum disorders» will be published June 9 in Neuron.

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 assembly.

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.

60/2: 45 De novo likely gene disrupting mutations and genic copy number variants increase the risk for Tourette's Disorder.