Sentences with phrase «rare gene variants»

The researchers said their finding could lead to new treatments that might help ease symptoms of menopause, but more research is needed to understand how other rare gene variants could affect hot flashes.

While a few rare gene variants can explain a fraction of ASD cases, Fallin and other researchers suspected that the epigenome could add significantly more to understanding this disease.

In the National Institutes of Health - funded study, researchers at Wake Forest Baptist identified and evaluated six rare gene variants within the beta2 - adrenergic receptor gene, the gene that may influence the response to beta agonist drugs.

«We hypothesized that rare gene variants would account for uncommon and severe adverse responses to long - acting beta agonists.

Fast population growth has littered our genomes with five times as many rare gene variants as would be expected.

A rare gene variant discovered by UCL (University College London) scientists is associated with an increased risk of developing schizophrenia, bipolar disorder and alcoholism, confirms new research.

Not exact matches

This team also discovered 3,200 genes that had fewer loss - of - function or missense mutations than would be expected suggesting that these are likely disease - causing variants that are rare or absent in the population because of their detrimental effect on human health.

All four teams focused their hunts on gene variations found in at least 10 per cent of the population, while Stefánsson thinks that rarer variants may play a more significant role in menarche.

«Rare variants alter gene function but occur at low frequency in a population.

About 4 percent of people in the study carried one of these two rare variants, which are located in the vicinity of the MGST1 gene on chromosome 12.

The CREBRF variant appears to be rare in other populations, but studying how the gene works may help researchers better understand obesity.

The inherited component of breast cancer risk is due to a combination of rare variants in genes such as BRCA1 and BRCA2 that confer a high risk of the disease, and many commoner genetic variants that each confer only a small risk.

By characterising the DNA sequence of these individuals, the project gained insight into the contribution of rare variants to a broad range of disease scenarios, and discovered new genetic variants and genes underpinning disease risk.

The study, which has identified more than 200 rare variants inherited by children, determines that genes YWHAZ and DRP2, among others, are new candidates in the research on autism genetic basis.

A study of people from an isolated village in the Netherlands reveals a link between rare variants in the gene NKPD1 and depressive symptoms.

The NCP1 gene identified is not a known variant in humans; it is a rare mutation to the feline population.

Comparing the two sets of genes, the team discovered several immune - related gene variants that were rare among the living.

A schizophrenic from Brazil might have a combination of rare - variant genes contributing to the disease that is different from the mix in a schizophrenic from Norway.

The existence of so many rare variants complicates efforts to study the relationship between genes and health.

A naturally occurring variant in a different gene, the so - called APOE2 allele, has been previously shown to protect against Alzheimer's disease, but Stefansson says the new variant, while rarer, confers much greater protection.

Other medical sequencing projects will use DNA sequencing to: discover new genes that are involved in common diseases; identify the genes responsible for dozens of relatively rare, single - gene (autosomal Mendelian) diseases; sequence all of the genes on the X chromosome from affected individuals to identify those involved in sex - linked diseases; and survey the range of variants in genes known to contribute to certain common diseases.

Whole - exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among controls.

Abstract: We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early - onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population.

'' Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses» will be published June 9 in Neuron.

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people.

We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early - onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population.

Deeper analyses, revealed that the RNA expression pattern of a rare variant of the NCAN gene was highly correlated with that of the previously suggested susceptibility genes for developmental dyslexia.

April 17, 2013 Gene study helps understand pulmonary fibrosis A new study looking at the genomes of more than 1,500 patients with idiopathic pulmonary fibrosis, a rare and devastating lung disease, found multiple genetic associations with the disease, including one gene variant that was linked to an increase in the risk of deGene study helps understand pulmonary fibrosis A new study looking at the genomes of more than 1,500 patients with idiopathic pulmonary fibrosis, a rare and devastating lung disease, found multiple genetic associations with the disease, including one gene variant that was linked to an increase in the risk of degene variant that was linked to an increase in the risk of death.

More recently, in a joint initiative with the BBMRI - LPC project (Biobanking and Biomolecular Resources Research Infrastructure — Large Prospective Cohorts) and the Wellcome Trust Sanger Institute, the CNAG - CRG launched a call to promote the use of sequencing technologies for the identification of novel causative variants and genes and to molecularly diagnose rare disease patients.

A key step in the analysis of rare variants in disease is to distinguish genetic variants that are likely to disturb gene function.

Here we utilize whole - genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential for minor intron splicing.

Four genes also exhibited a significant burden of rare damaging variants, suggesting a functional link to disease risk.

They applied a strategy for seraching genes with multiple rare (minor allele frequency < 0.001) variants in cases but not in controls with a potentially damaging effect.

One of the rare variant burden genes, TIMP3, was previously associated with Sorsby's fundus dystrophy, a rare disease similar to AMD but with earlier on set and Mendelian inheritance.

This idea is intuitive: in theory, large - effect variants would be kept at low frequency by natural selection, a pattern that's well established for mutations that cause rare single - gene disorders.

It is important to note whether a test interrogates a set of common variants, or sequences entire genes (and identifies both common and rare variants).

Furthermore, three of four affected family members carried a rare variant in the TSHZ3 gene, also associated with AβPP processing.

Many patients suffering from Rare Disease harbour genomic variants (sequence variants or copy number variants) that by disrupting normal gene expression lead to disease.

The theory and approaches of aggregation testing are too broad a topic to cover here, but the general concept is this: by grouping individual rare variants into a biological unit — most often, a gene or exon — it's possible to test the super-genotype (i.e. «has a rare variant in gene A») for association.

We performed exome sequencing in 13 parent - offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2.

The authors searched for high - quality rare coding variants in a curated set of 224 retinal disease genes.

Styrkarsdottir U Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.

We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient - parent trios that were generally prescreened for rare metabolic disorders.

High - resolution maps of enhancer - promoter interactions in rare primary human T cell subsets and coronary artery smooth muscle cells link variants associated with autoimmune and cardiovascular diseases to target genes.

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.

Friday, Oct. 20, 5:30 - 5:50 p.m., South Hall B, South Building Featured Plenary Abstract: The contribution of rare variants, polygenic risk, and novel candidate genes to the hereditary risk of breast cancer in a large cohort of breast cancer families N. Li, Peter MacCallum Cancer Center, et al

We detected a burden of very rare, damaging missense variants in known Crohn's disease risk genes, suggesting that more comprehensive sequencing studies will continue to improve understanding of the biology of complex diseases.

159/6: 00 A rare missense variant in the B - type natriuretic peptide gene NPPB is associated with increased risk for incident heart failure.

Conversely, rare variants that inactivate the NOS3 or GUCY1A3 genes were associated with a 23 mm Hg higher systolic blood pressure (CI 12, 34 mm Hg; p = 5.6 * 10 -LRB--5)-RRB- and a three-fold higher risk of coronary heart disease (OR 3.03 CI 1.29, 7.12, p = 0.01).

309/5: 00 Meta - analysis of rare and common exome chip variants identifies and replicates S1PR4 and other novel genes influencing blood cell traits.