Sentences with phrase «of some copy number variants»

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 discovery came about while researchers were exploring and comparing the accumulation of copy number variants during great ape evolution.

Examination of copy number variants, alternative splicing, epigenetics and genetic variants are needed to characterise the interactions between heritable and non-heritable mutations for an insight into the full genomic complexity of these little - understood disorders.

To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes.

Not exact matches

The researchers looked at a type of genetic change called copy number variants, which refers to the number of copies of genes in human DNA.

«Copy number variants in human DNA can be compared to repeated or missing paragraphs or pages of text in a book,» said senior author Dr. James R. Lupski, Cullen Professor of Molecular and Human Genetics at Baylor.

The researchers are analyzing more patient samples looking for additional cases of multiple copy number variants to continue their investigation of what may trigger this rare phenomenon.

In this rare phenomenon, the copy number variants are predominantly gains — duplications and triplications — rather than losses of genetic material, and are present in all the cells of the child.

But these copy - number variants (CNVs) tend to be extremely rare, showing up in less than 1 % of children with autism.

Anita Thapar of Cardiff University, UK, and colleagues screened DNA from 366 children with ADHD and 1047 without for copy - number variants (CNVs)-- specific regions of DNA that were either missing or duplicated.

They also plan to improve breeding programs by ensuring parental lines have the maximum number of repeats available in a given genotype, and to select for new variants with additional copies that may show superior resistance.

Copy number variants are differences between individuals, populations or species in the number of times specific segments of DNA appear.

In contrast, copy number variants turned up in just 2 % of 47 families with multiple cases of apparently inherited autism, the team reports today in Science.

Using a variety of techniques, the researchers scanned the genetic material for so - called copy number variants, in which relatively long stretches of DNA are lost or gained.

It is the largest ever to analyze genetic structural variants or copy - number variants (CNVs) of Tourette.

With its large sample size, this study had the power to find copy number variants with large effects that occur in more than 0.1 percent of schizophrenia cases.

The researchers also found that these copy number variants occurred more frequently in genes involved in the function of synapses, the connections between brain cells that transmit chemical messages.

A copy number variant may affect dozens of genes, or it can disrupt or duplicate a single gene.

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.

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 largest numbers of variants identified by genome - wide association are copy - number changes, which have a greater phenotypic effect than do single nucleotide polymorphisms.

In this study, Teitell and his team sought to determine copy number variants (CNVs), or differences in the numbers of certain genes, in two embryonic stem cell lines.

Its characteristically low mutational burden, high copy number and structural variants, and unique driver mutation prevalence are important in helping us understand the natural history of the disease and its response to various therapies.

Using DECoN (which stands for Detection of Exon Copy Number variants), the researchers took advantage of the high density of sequencing data available in new gene panels to accurately detect deletions or duplications of exons.

This study of human genetic variation and its relationship to health and disease involves a large number of study participants and will capture not only common single nucleotide variations but also rare copy number and structural variants that are increasingly thought to play an important role in complex disease.

Another distinctive genetic feature of mucosal melanoma is its high rate of copy number and structural variants, demonstrated both by array - based comparative genomic hybridization and whole - genome sequencing.

This is to accommodate small variants that occur at sites of copy number variation as well as in samples that are not pure: for example, due to tumor heterogeneity or sample mosaicism.

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.

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 variation.

In tumor samples, where we frequently encounter variants with a very small allele frequency due to contamination with normal tissue, copy number variation, and tumor heterogeneity, high coverage is essential for accurate detection of these variants with high power.

30/3: 15 The application of the CNVSeq method for whole genome copy number variant detection.

Molecular profiling of large tumour numbers has also allowed the annotation of more than 13 million non-coding mutations, 18 029 gene fusions, 187 429 genome rearrangements, 1 271 436 abnormal copy number segments, 9 175 462 abnormal expression variants and 7 879 142 differentially methylated CpG dinucleotides.

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.

By analyzing genome sequence data from human populations, including 1269 individuals from sub-Saharan Africa, we identify a diverse array of large copy number variants affecting the host invasion receptor genes GYPA and GYPB We find that a nearby association with severe malaria is explained by a complex structural rearrangement involving the loss of GYPB and gain of two GYPB - A hybrid genes, which encode a serologically distinct blood group antigen known as Dantu.

Mapping the changes in copy number to the phylogeny of these Y chromosomes previously established by the Project identified at least 20 mutational events, and investigation of flanking paralogous sequence variants showed that the mutations involved flanking sequences in 18 of these, and could extend over > 30 kb of DNA.

Methods: We did a genome - wide association study of 297 P falciparum isolates from Cambodia to investigate the relationship of 11 630 exonic single - nucleotide polymorphisms (SNPs) and 43 copy number variations (CNVs) with in - vitro piperaquine 50 % inhibitory concentrations (IC ₅₀ s), and tested whether these genetic variants are markers of treatment failure with dihydroartemisinin - piperaquine.

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.

Ford C - Max Energi: While the Fusion Energi posted a surprisingly high number of its own, the 988 C - Max Energis sold in June was even more significant... considering the non plug - in variant of the C - Mas only sold 1,952 copies.

Current research shows that the genomes between avian species have much less copy number variants than do those of mammals.

For structural variants, for example, a huge insertion or deletion of DNA sequence, or a copy number variant where you see four copies of a sequence in one dog and five in another, our accuracy is a bit lower, closer to 99 %.

The genetic test determines for the number of mutated copies present are reports the «copy number variant.»