Snps gene alleles alleles with haplotype haplotypes. Medical search. Frequent questions

It is estimated that there are at least 10 million SNPs within the human population but there are also many other types of genetic variants and they occur at dramatically different scales. (wikipedia.org)
Several novel upstream region variants were validated, for instance by their segregation to a single haplotype in heterozygotic subjects. (lu.se)
SNPs representing several sequence variants were identified from population data. (lu.se)
Methods We combined haplotype analysis and differential allelic expression of BRCA2 in breast tissue to identify expression haplotypes and candidate cis-regulatory variants. (ku.edu)
We identified small-effect genetic variants associated with allelic expression differences in BRCA2 which could possibly affect the risk in mutation carriers through altering expression levels of the wild-type allele. (ku.edu)
We assert that the stability of whole genome adaptation is reflected in the frequencies of maintained diversity in these common variants (SNPs) for a population in its environment. (scirp.org)
The polymorphic variants of the IGF genes may serve as a susceptibility factor for pancreatic cancer. (aacrjournals.org)
Using 1000 Genomes Project haplotypes, we identified a total of 4069 full-length polypeptide variants encoded by these OR loci, average of ~10 per locus, constituting a lower limit for the effective human OR repertoire. (biomedcentral.com)
A widely accepted working hypothesis is that allelic variants of OR genes may harbor different functional characteristics and hence, may generate different odorant sensitivity phenotypes in different members of the human population [ 16 - 18 ]. (biomedcentral.com)
Associations of DPP9 with human liver cancer, exonic single nucleotide polymorphisms (SNPs) in DPP9 and loss of function (LoF) variants have not been explored. (preprints.org)
Stargardt disease (STGD1) is a form of inherited retinal dystrophy attributed to variants affecting function of the large ABCA4 gene and is arguably the most complex monogenic disease. (nature.com)
In order to meet the grand challenge of human genetics, that is, to understand what causes disease and translate this knowledge to improve health outcomes, we need to know the number and population frequency of disease variants, the magnitude of their effects on phenotype and gene-gene and gene-environment interactions. (nature.com)
For monogenic disorders, the genetic architecture is simplified as disease variants are, by definition, highly penetrant and environmental and gene-gene interactions are minimized. (nature.com)
Patients with ABCA4 -related disease have pathogenic variants in the ABCA4 gene which encodes a large, 2273 amino acid photoreceptor-specific transporter involved in the removal of toxic retinoid compounds from photoreceptors [ 20 ]. (nature.com)
Only the non-synonymous SNPs (nsSNPs), also called as missense variants are particularly important as they result to changes in the translated amino acid residue sequence. (springeropen.com)
Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients. (cdc.gov)
Variants in blood pressure genes and the risk of Accardi R, Rubino R, Scalise M et col . (2011). (who.int)

Using the HapMap genotype data and genome wide expression data, we assessed the distribution and functional implications of singleton SNPs in the human genome. (nature.com)
Body S11 TRBV gene use based on the TRBV7-2 genotype in DS3. (findadig.com)
For repertoire analyses from the four data models, as well as the sequences from the undocumented alleles inferred, please make reference to www.github.com/omaviv/TCR_genotype/tree/master/figures/data. (findadig.com)
SOLUTIONS TO confront this problem, AIRR-seq-based strategies have already been created for B cells lately, allowing haplotype and genotype inference and discovery of undocumented alleles. (findadig.com)
Here, we modified a B cell pipeline for undocumented alleles, genotype, and haplotype inference for complete and incomplete AIRR-seq TCR data models. (findadig.com)
A haplotype ( haploid genotype ) is a group of alleles in an organism that are inherited together from a single parent. (wikipedia.org)
The haploid genotype (haplotype) is a genotype that considers the singular chromosomes rather than the pairs of chromosomes. (wikipedia.org)
An organism's genotype may not define its haplotype uniquely. (wikipedia.org)
Methods The genotype of nine SNPs in the FP receptor gene was determined by direct DNA sequencing, or other techniques, in 82 patients with glaucoma or OH who were treated with latanoprost monotherapy in one eye. (bmj.com)
There was no significant difference in allele and genotype frequencies of +276G>T between type T2DM patients and controls. (who.int)

Such combinations of SNPs are said to be in linkage disequilibrium (LD). (scirp.org)

The human genome is estimated to contain one single nucleotide polymorphism (SNP) every 300 base pairs. (nature.com)
If genotyping cost is a major concern, which often is the case at the present time for genome-wide association studies, these singleton tagging SNPs would be the primary targets to be removed from genotyping. (nature.com)
We further assessed whether singleton SNPs can be tagged using haplotypes of tagSNPs in the three genome wide chips, that is, GeneChip 500k of Affymetrix, HumanHap300 and HumanHap550 of Illumina, and discussed the general implications on genetic association studies. (nature.com)
Large scale genome-wide association studies using single nucleotide polymorphisms (SNPs) are now becoming the state of the art in disease genetic studies. (nature.com)
The human genome is thought to contain one SNP every 100-300 bp. (nature.com)
It is now known that LD is not only present between SNPs in close physical proximity along the genome, but is also often present between widely spaced markers to form haplotype blocks. (nature.com)
If genotyping cost is the primary concern, which may often be the case at the present time for genome-wide association studies, these singleton tagging SNPs would be the primary targets for further removal from the final list of SNPs to be genotyped. (nature.com)
In this study, we investigate the distribution and functional implications of singleton SNPs in the human genome using the phase II HapMap data. (nature.com)
As a living information and communications system, the genome encodes patterns in single nucleotide polymorphisms (SNPs) reflecting human adaptation that optimizes population survival in differing environments. (scirp.org)
As dynamic sites in the human genome, SNPs are often highly correlated into combinations referred to as haploblocks whose haplotypes are maintained throughout generations with fixed frequencies within a given population. (scirp.org)
We sought to assemble alternative haplotypes of regions of the cattle genome that may harbor alleles that confer increased disease resistance or susceptibility. (usda.gov)
Using a custom SNP microarray we validated 150 SPGs in a cohort of 468 individuals, with every individual genome averaging 36 disrupted sequence variations, 15 in homozygote form. (biomedcentral.com)
Cancer genome sequencing reveals diverse acquired mutations in CTCF , which we have shown, functions as a tumour suppressor gene. (preprints.org)
Microfluidic whole genome haplotyping is a technique for the physical separation of individual chromosomes from a metaphase cell followed by direct resolution of the haplotype for each allele. (wikipedia.org)
Unfortunately, WGA introduces biases in the resulting sequencing data, including non-uniformity in genome coverage and high rates of allele dropout. (nsf.gov)

Finally, based on the outcomes of the analysis, we define a set of testable hypotheses with respect to the placement of particular alleles in complex IGHV locus haplotypes, and discuss the evolutionary relatedness of particular heavy chain variable genes based on sequences of their upstream regions. (lu.se)
By using two sequencing primers with 3'end corresponding to the two alleles in a given SNP locus, we are able to obtain allele-specific DNA sequences from both alleles. (nofima.no)

A study was done on the olfactory receptor gene clusters where they questioned if there was an association between normal rearrangement of 8p and the repeated inverted sequences. (wikipedia.org)
Upstream and downstream sequences of immunoglobulin genes may affect the expression of such genes. (lu.se)
Upstream sequences were also identified for a set of previously uncharacterized germline gene alleles. (lu.se)
The pipeline handles gene project ambiguities also, which is important in the analysis of data sets of partial sequences specifically. (findadig.com)
We evaluated this direct haplotype-specific approach by determining haplotypes within the intron 2 sequence of the fructan-6-fructosyltransferase (6-ft) gene in Lolium perenne L. We obtained reliable haplotype-specific sequences for all primers and genotypes evaluated. (nofima.no)
We used this information to develop the BrassicaEDB, including eFP, Treatment, Coexpression, and SRA Project modules based on gene expression profiles and Gene Feature, qPCR Primer, and BLAST modules based on gene sequences. (preprints.org)
First, it is used to mean a collection of specific alleles (that is, specific DNA sequences) in a cluster of tightly linked genes on a chromosome that are likely to be inherited together-that is, they are likely to be conserved as a sequence that survives the descent of many generations of reproduction. (wikipedia.org)
I am performing a haplotype and nucleotide diversity analysis of my Sanger sequences (from Watermelon mosaic virus coat protein region) using the Arlequin program. (stackexchange.com)
This technique uses the nested PCR amplification of pfcrt gene sequences, which may be easily detected by using DNA extracted from whole blood spotted on filter paper. (cdc.gov)

Our results demonstrated that SNPs of potentially higher functional importance (eg, nonsynonymous SNPs, SNPs in splicing sites and SNPs in 5′ and 3′ UTR) are associated with a higher tendency to be singleton SNPs than SNPs in intronic and intergenic regions. (nature.com)
Two DPP9 intronic SNPs that have been associated with lung fibrosis and COVID-19 were not associated with liver fibrosis or cancer. (preprints.org)
These 37 SNPs includes one in 3′ near gene, nine in 3′ UTR, one non-synonymous SNP (nsSNP), thirteen intronic SNPs and thirteen in 5′ near gene. (springeropen.com)
Out of these, 4 SNPs from 3′ UTR were found to play role in miRNA binding, 7 SNPs from 5′ near and intronic region were predicted to involve in transcription factor binding and expression of MBL2 gene. (springeropen.com)

Diisocyanate asthma (DA) is associated with specific HLA-DQ alleles, glutathione-s-transferase and N-acetyltransferase genotypes. (cdc.gov)
Single nucleotide polymorphisms (snp) for IL-4Ralpha (Ile75Val, Glu400Ala, Glu 576 Arg or Q576R, Cys431Arg), IL-13 (R130Q) and CD14 (C159T) were analyzed to elucidate disease-associated genotypes. (cdc.gov)
Given the genotypes for a number of individuals, the haplotypes can be inferred by haplotype resolution or haplotype phasing techniques. (wikipedia.org)
ABSTRACT This study aimed to estimate the frequency of the SNPs (+45T>G and +276G>T) genotypes and investigate the association between the two SNPs and adiponectin concentration, metabolic parameters and risk of T2DM in the Bahraini population. (who.int)

This reflects that certain SNP allelic combinations never appear within the population, implying that only certain haplotypes are biologically viable and generationally maintained. (scirp.org)
These methods work by applying the observation that certain haplotypes are common in certain genomic regions. (wikipedia.org)

Our results demonstrated that singleton SNPs distribute across various functional groups and more interestingly a higher proportion of SNPs that have potentially higher importance (such as nonsynonymous SNPs, SNPs in splicing sites, etc) are singletons than of SNPs in introns and intergenic regions. (nature.com)
Although the functional significance of these findings is uncertain, these haplotypes could be susceptibility markers for DA and may be useful aids in the diagnosis of DA. (cdc.gov)
The close genomic locations of these two genes as well as their functional similarity have hindered efforts to define whether each gene independently influences human triglyceride concentrations. (doe.gov)
The statistical power of our double-blind approach is demonstrated in the flagging of mathematical functional correlations of SNP information-based potentials in multiple populations with specific environmental parameters. (scirp.org)
Cell-surface receptors are often characterized by several haplotypic alleles in the population, sometimes with different functional properties. (biomedcentral.com)
In the human lineage (after correction for multiple testing) we found that only the gene TULP2 , for which no functional data are yet available, is subject to episodic positive diversifying selection. (biomedcentral.com)
The present study was carried out to identify and prioritize the SNPs of MBL2 gene for further genotyping and functional studies. (springeropen.com)
From these 37 SNPs, 11 non-coding SNPs were identified to be of functional significance and evolutionary conserved. (springeropen.com)
MBL1 and MBL2 , but in human the first of them is pseudogene leaving one functional gene MBL2 (Guo et al. (springeropen.com)

Abstract Introduction Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. (ku.edu)
The haplotype without mutations was more common in Kyrgyz (40.1% in Kyrgyz, 29.3% in Romanians). (aacrjournals.org)
The term ' haplogroup ' refers to the SNP/ unique-event polymorphism (UEP) mutations that represent the clade to which a collection of particular human haplotypes belong. (wikipedia.org)
MEFV gene mutations, seen in persons with Mediterranean fever, are increased in persons with Behçet disease. (medscape.com)
These studies have predominantly relied upon detection of mutations in the P. falciparum chloroquine resistance transporter ( pfcrt ) gene ( 3 - 8 ) as a proxy for possible drug resistance. (cdc.gov)

Associated SNPs were then genotyped in 102 additional cases (phase II: 37 ICH, 65 non-ICH), and data were combined for multivariable logistic regression. (kaiserpermanente.org)

When DNA sequencing was introduced, it opened the door to finding smaller and incredibly more sequence variations including SNPs and minisatellites. (wikipedia.org)
Determining haplotype-specific DNA sequence information is very important in a wide range of research fields. (nofima.no)
However, no simple and robust approaches are currently available for determining haplotype-specific sequence information. (nofima.no)
In order to identify single nucleotide polymorphism (SNP) markers that would be suitable for assays, we aligned sequence data from 125 Holstein bulls to the alternative haplotypes. (usda.gov)
As part of a project on environmental disasters in minority populations, this study aimed to evaluate differences in the sequence of N-acetyltransferase 2 ( NAT2 ) as a metabolic susceptibility gene in yet unexplored ethnicities. (aacrjournals.org)
It is thought that identifying these statistical associations and a few alleles of a specific haplotype sequence can facilitate identifying all other such polymorphic sites that are nearby on the chromosome. (wikipedia.org)
1998 ). The MBL2 gene is composed of 7461 bases and lies between the regions 52765380 to 52772841 bp of chromosome no. 10 (NCBI reference sequence number NC_000010.11). (springeropen.com)
We show that amplification biases have a potential upside: long-range correlations in rates of allele dropout provide a signal for phasing haplotypes at the lengths of amplicons from WGA, lengths which are generally longer than than individual sequence reads. (nsf.gov)

Therefore, the dynamically independent statistical genomic units we use are SNP haplotypes together with alleles within SNP sites that are not in contiguous LD with any other SNPs. (scirp.org)
however, current genomic selection genotyping tools have a paucity of genetic markers within key immune gene clusters (IGC) involved in the cattle innate and adaptive immune systems. (usda.gov)

Park et al analyzed TNF-alpha haplotypes in the promoter response element that affect the binding affinity of certain transcription factors. (medscape.com)
TNF-alpha haplotypes in the promoter response elements may be useful in identifying those more susceptible to Behçet disease. (medscape.com)
Identification of polymorphisms in the promoter region of the human NRF2 gene. (besjournal.com)
The effect of the promoter variant was further studied by luciferase gene reporter assay in MCF-7, HEK293, HeLa and LNCaP cell lines. (biomedcentral.com)
Luciferase reporter gene assay of the promoter construct bearing this variant did not suggest a variation of expression in the MCF-7 breast cancer cell line, but indicated a reduction of luciferase expression in both the HEK293 and LNCaP cell lines. (biomedcentral.com)
Several studies have shown MBL2 SNPs of promoter and exonic region regulate the MBL2 serum levels in different autoimmune diseases and infectious diseases, including HIV infection, leishmaniasis, leprosy, malaria, schistosomiasis, tuberculosis and trypanosomiasis (Madsen et al. (springeropen.com)

Our combined data suggest that 271 of the 413 intact OR loci (66%) are affected by nonfunctional SNPs/indels and/or CNVs. (biomedcentral.com)
For example, consider a diploid organism and two bi-allelic loci (such as SNPs ) on the same chromosome. (wikipedia.org)
For a given individual, there are nine possible configurations (haplotypes) at these two loci (shown in the Punnett square below). (wikipedia.org)
For individuals heterozygous at both loci, the gametic phase is ambiguous - in these cases, you do not know which haplotype you have, e.g. (wikipedia.org)

METHODS AND RESULTS: Eight haplotype-tagging SNPs spanning approximately 29 kb were tested for association with ICH presentation in 146 white patients with BAVM (phase I: 56 ICH, 90 non-ICH) using allelic, haplotypic, and principal components analysis. (kaiserpermanente.org)
Genotyping and allelic discrimination of HLA-DPrs3077 (G/A), HLA-DQrs7453920 (A/G), and IFNλ4 rs73555604 (C/T) SNPs were performed using real-time PCR. (bvsalud.org)

We conclude that the haplotype-specific sequencing is robust, and that the approach has a potentially very wide application range for any diploid organism. (nofima.no)

Single nucleotide polymorphisms (SNPs) are considered to be the largest contributor to genetic variation in humans since they are so abundant and easily detectable. (wikipedia.org)
Single-nucleotide polymorphisms (SNPs) in the glucocorticoid receptor (GR) gene influence the sensitivity to glucocorticoids and are related to both microbial colonization and susceptibility to develop auto-immune disease. (eur.nl)
Eight single nucleotide polymorphisms (SNP) in the NAT2 coding region and a variant in the 3′ flanking region were analyzed in 290 unrelated Kyrgyz and 140 unrelated Romanians by SNP-specific PCR analysis. (aacrjournals.org)
[3] [4] A second use is to mean a set of linked single-nucleotide polymorphism (SNP) alleles that tend to always occur together (i.e., that are associated statistically ). (wikipedia.org)
[8] A haplogroup is a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation . (wikipedia.org)
Aim To examine whether intraocular pressure (IOP) reduction by latanoprost correlates with single nucleotide polymorphisms (SNPs) of the prostaglandin F2α (FP) receptor gene in patients with glaucoma and ocular hypertension (OH). (bmj.com)
The involvement of single-nucleotide polymorphisms (SNPs) in the TLR genes in infectious pathogenicity, including toxoplasmic retinochoroiditis, points at a possible involvement of TLR alterations in immunity against T. gondii . (springer.com)
We investigated the association of single-nucleotide polymorphisms (SNPs) and haplotypes in EPHB4 with risk of ICH at clinical presentation in patients with BAVM. (kaiserpermanente.org)
A single-nucleotide polymorphism (SNP) is the most common type of genetic variation. (springeropen.com)
We describe a statistical test to measure concurrent allele dropout between single-nucleotide polymorphisms (SNPs) across multiple sequenced single cells. (nsf.gov)
We use results of this test to perform haplotype assembly across a collection of single cells. (nsf.gov)
Of these mediators, cytokines play a single nucleotide polymorphisms (SNP) in pro-inflammatory cytokine genes and asthma phenotypes (Che et al. (cdc.gov)

The MICA allele is a polymorphic MHC class I-related A gene ( MICA ) family. (medscape.com)

In conclusion, GR haplotypes are not a susceptibility factor for GBS. (eur.nl)

We discovered that an individual nucleotide polymorphism differentiating between your two noted T cell receptor Beta D2 (TRBD2) alleles is certainly strongly connected with dramatic adjustments in the portrayed repertoire. (findadig.com)
Haplotypes of IL-4 receptor and CD14 genetic polymorphisms are markers of susceptibility for diisocyanate asthma. (cdc.gov)
In addition, we discuss reports on the interactions of OXT and AVP receptor genes and genes involved in other pathways (such as those of dopamine, serotonin, and reelin), as well as research that has shed some light on the impact of gene polymorphisms on the volume, connectivity, and activation of specific neural structures, differential receptor expression, and plasma levels of the OXT and AVP peptides. (frontiersin.org)
Enriched pathways analysis of these positively correlated genes featured Toll-like receptor and SUMOylation pathways. (preprints.org)
The correlation between %ΔIOP and SNPs in the FP receptor gene was analysed. (bmj.com)
Conclusions An association was found between SNPs of the FP receptor gene and the response to latanoprost in patients with glaucoma or OH. (bmj.com)

However, combinations of snps in the IL-4Ralpha and CD14 genes were found to be significantly associated with DA. (cdc.gov)
The IC, QC and IQC haplotypes are significantly associated with the DA phenotype. (cdc.gov)
HLA-B51 or its B101 allele is significantly associated with Behçet disease in Japan, Korea, Turkey, and France and with ocular manifestations in Britain. (medscape.com)
The MICA6 allele has recently been shown to be significantly associated with Behçet disease (74%), compared with controls (45.6%) in Japan. (medscape.com)
Their study showed that TNF-alpha -1031*C, -863*A, -857*C, and -308*G alleles were significantly associated with Behçet disease. (medscape.com)

Furthermore, there was suggestive evidence that the minor allele of SNP rs4942440, which is associated with higher BRCA2 expression, is also associated with a reduced risk of breast cancer (per-allele hazard ratio (HR) = 0.85, 95% confidence interval (CI) = 0.72 to 1.00, P-trend = 0.048). (ku.edu)
We could distinguish six different GR haplotypes of which two carried the BclI polymorphism: haplotype 1, which consists of the minor allele of BclI in combination with the common variant of TthIIII and haplotype 2, which carries the minor allele of BclI as well as the minor allele of TthIIII. (eur.nl)
However, haplotypes carrying the minor allele of the BclI polymorphism were related to the phenotype and outcome of GBS. (eur.nl)
Database comparisons of the NAT2 minor allele frequencies support that Romanians belong to Caucasians and Kyrgyz are in between Caucasians and East Asians. (aacrjournals.org)
Among estimated haplotypes, one haplotype that contained the minor allele only in rs3753380, was significantly correlated with low responders even after correction for multiple test (permutation test, p=0.037). (bmj.com)
Out of total 661 SNPs, only 37 validated SNPs having minor allele frequency ≥0.10 were considered for the present study. (springeropen.com)

Association of Immune and Inflammatory Gene Polymorphism With the Risk of IgA Nephropathy: A Systematic Review and Meta-Analysis of 45 Studies. (cdc.gov)
We genotyped the two ADIPOQ SNPs in 140 unrelated T2DM patients and 66 nondiabetic controls using the polymerase chain reaction-restriction fragment length polymorphism assay. (who.int)

The frequency of the IC haplotype (shared between I75V and C159T) was 0.44 in DA + workers vs. 023 among DA- subjects (p=0.04). (cdc.gov)
The QC haplotype frequency (Q576R, C159T) of 0.667 in the DA + group was more frequent (0.425) than in the DA- groups (p=0.03). (cdc.gov)
Furthermore, the frequency of IQC haplotype (l75V, Q576R, C159T) was 0.44 in DA + workers vs. 0.217 in the DA - group (p=0.04). (cdc.gov)
A statistically significant increase in the frequency of HLA-DPrs3077G, HLA-DQrs7453920A, and IFNλ4rs73555604C alleles among severe COVID-19 patients when compared with other groups (p (bvsalud.org)

Gene 2021 Jul 800 145838. (cdc.gov)

SNPs tagging the expression haplotypes were correlated with the total expression of several genes in breast tissue measured by Taqman and microarray technologies. (ku.edu)

RIViT-seq technology could speed up associating transcription factors with their target genes. (doe.gov)
Using this database, researchers can quickly retrieve the expression level data for target genes in different tissues and in response to different treatments to elucidate gene functions and explore the biology of rapeseed at the transcriptome level. (preprints.org)

The presence of LD between SNP markers can be used to save genotyping cost via appropriate SNP tagging strategies, whereas absence or low level of LD between markers generally increase genotyping cost. (nature.com)
This is often a problem for many tagging schemes since a large proportion of tagging SNPs turns out to be singleton tagSNP markers, which do not contribute power to the rest of a region at all. (nature.com)
Conclusions We demonstrate that a hierarchical assembly and variant-calling approach is able to identify suitable genetic markers to tag alternative IGC alleles in reference populations. (usda.gov)
New methods of mapping offer a promising route to the identification of genetic markers for the genes of complex traits and provide a foundation for molecular enhanced breeding of maize. (cropscience.org.au)
Conclusion: HLA-DQ rs7453920A, HLA-DPrs3077G, and IFNλ4rs73555604C alleles could be used as markers of COVID-19 severity. (bvsalud.org)

ABCA4- related retinal dystrophies have a major impact on quality of life and clinical interventions including stem cell therapy, gene replacement therapy, and pharmacological agents are currently being developed [ 21 ]. (nature.com)

ERAP1 is a gene that encodes an endoplasmic reticulum amino peptidase, which acts on amino acid terminals in peptides that are then involved in HLA class I molecules, affecting their length for optimum major histocompatibility complex (MHC)-I binding. (medscape.com)

It is important, however, to understand the characteristics of such SNPs and estimate the impact of removing them in a study. (nature.com)
As the number and characteristics of such alleles are undetermined, a focussed candidate gene approach based on genes closely interacting with the known susceptibility genes such as BRCA1 and BRCA2 , the two major susceptibility genes identified yet, constitutes a study design of choice to identify rare-moderate-penetrance susceptibility alleles. (biomedcentral.com)

The gene contains four exons and three introns. (springeropen.com)

Using less stringent statistical criteria (uncorrected p -values), also the gene SPATA16 , which has a pivotal role in male fertility and for which episodes of adaptive evolution have been suggested, also displays a putative signal of diversifying selection in the human branch. (biomedcentral.com)

We have now established a new data pre-processing procedure to eliminate artifacts caused by a 5'-RACE library generation process, reanalyzed a previously studied data set defining human immunoglobulin heavy chain genes, and identified novel upstream regions, as well as previously identified upstream regions that may have been identified in error. (lu.se)
Members of the apolipoprotein gene cluster (APOA1/C3/A4/A5) on human chromosome 11q23 play an important role in lipid metabolism. (doe.gov)
Results We identified common haplotypes associated with differences in the levels of BRCA2 expression in human breast cells. (ku.edu)
METHODS: Five species-specific primers for human malaria species were designed targeting on the Plasmodium 18 small subunit ribosomal RNA (18S rRNA) and mitochondrial genes. (bvsalud.org)
Recent human transcriptomic analyses revealed a very large number of testis-enriched genes, many of which are involved in spermatogenesis. (biomedcentral.com)
At the same time, we found evidence for recent positive directional selection acting on several human testis-enriched genes ( MORC1 , SLC9B1 , ROPN1L , DMRT1 , PLCZ1 , RNF17 , FAM71D and WBP2NL ) that play important roles in human spermatogenesis and fertilization. (biomedcentral.com)
Episodic diversifying selection, possibly driven by sperm competition, was not an important force driving the evolution of testis-enriched genes in the human lineage. (biomedcentral.com)

The effect of the expression haplotypes on breast cancer risk in BRCA2 mutation carriers was investigated in 2,754 carriers. (ku.edu)
In a candidate gene study aiming at identifying genetic determinants of breast cancer susceptibility, we undertook the full sequencing of the NBN gene in our cohort of 97 high-risk non- BRCA1 and - BRCA2 breast cancer families, along with 74 healthy unrelated controls, also from the French Canadian population. (biomedcentral.com)

We report on retinal disease progression in homozygous patients, providing valuable allele-specific insights. (nature.com)

This paper mathematically models environmentally induced adaptive forces that quantify changes in the distribution of SNP frequencies between populations. (scirp.org)

Methods We selected bacterial artificial chromosome (BAC) clones harboring key IGC genes from public and private libraries and sequenced the inserts with long-read sequencing technologies. (usda.gov)

We determined the expression patterns of 101,040 genes via FPKM analysis and displayed the results using the eFP browser. (preprints.org)
I have a snp information in an excel file and I used SNPstat to do some analysis. (stackexchange.com)
In principal components analysis, 2 components explained 91% of the variance and complemented haplotype results by implicating 4 SNPs at the 5′ end, including rs314308 and rs314313. (kaiserpermanente.org)
Weighted Gene Co-expression Network Analysis Reveals Different Immunity but Shared Renal Pathology Between IgA Nephropathy and Lupus Nephritis. (cdc.gov)

Streamlining Regulon Identification in Bacteria Regulons are a group of genes that can be turned on or off by the same regulatory protein. (doe.gov)
Positive selection acts on eQTLS and sQTLs, indicating selective effects on important gene regulatory functions. (biomedcentral.com)

It is quite common that a large proportion of tagging SNPs in a tagging scheme often turn out to be singleton SNPs, that is, SNPs that only tag themselves rather than contribute power to the rest of a region. (nature.com)
Clade here refers to a set of haplotypes sharing a common ancestor. (wikipedia.org)
The rare G allele of +45T>G occurred more frequently than the common T allele in T2DM patients compared with controls, and was associated with lower serum adiponectin levels. (who.int)

13 Since marker density is an important factor in determining whether or not an SNP is independent of other SNPs, we also assessed the HapMap ENCODE data where SNPs were obtained not only from public databases but also from resequencing ( http://www.hapmap.org ). (nature.com)
Survival and gene signature analyses were performed on hepatocellular carcinoma (HCC) data. (preprints.org)
Given SNP-Chip data for a population, what tool should I use to reconstruct haplotypes? (stackexchange.com)
I think Eagle or haploSep will do the job of reconstructing haplotype data, but I'm not sure what the 'standard' or best practice tool to use is. (stackexchange.com)
Why does gene count increase drastically after scaffolding with Hi-C data? (stackexchange.com)
This comprehensive transcriptomic data lead us to the question whether positive selection was a decisive force influencing the evolution and variability of testis-enriched genes in humans. (biomedcentral.com)
To predict the possible impact of SNPs on MBL structure and function SNP data obtained from dbSNP database were analyzed using various bioinformatics tools. (springeropen.com)

There was no association between both SNPs and metabolic parameters. (who.int)

Carriers of haplotype 2 had more frequently preceding diarrhea, serum antibodies to GM1 and GD1a, and more severe muscle weakness at entry. (eur.nl)

Resistance to the antimalarial drug chloroquine has rarely been reported in Haiti, which is located on Hispaniola, but the K76T pfcrt ( P. falciparum chloroquine resistance transporter) gene mutation that confers chloroquine resistance has been detected intermittently. (cdc.gov)

These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)

We have addressed this problem by developing a very simple and robust haplotype-specific sequencing approach. (nofima.no)
Our algorithm will be useful for haplotyping of rare alleles and studies of allele-specific somatic aberrations. (nsf.gov)
4, 5] Some of these susceptibility genes are specific to either Graves disease or Hashimoto thyroiditis, while others confer susceptibility to both conditions. (medscape.com)

Desk S5 unidentified alleles comparison Previously. (findadig.com)
These genes were selected based on their role in asthmatic inflammatory processes and History previously reported associations with asthma phenotypes. (cdc.gov)

A study found that forty percent of haemophilia A patients had a factor 8 gene inversion of a certain region that was four hundred kb in size. (wikipedia.org)
In this study, we genotyped 318 GBS patients and 210 control subjects for five known SNPs in the GR gene. (eur.nl)
Nous avons génotypé les deux polymorphismes mononucléotidiques du gène ADIPOQ chez 140 patients atteints de DNID sans lien de parenté et 66 témoins non diabétiques en recourant à l'analyse du polymorphisme de longueur des fragments de restriction par réaction en chaîne de polymérase. (who.int)

Association between NFE2L2 Gene Polymorphisms and Noise-induced Hearing Loss in a Chinese Population[J]. Biomedical and Environmental Sciences, 2019, 32(6): 465-470. (besjournal.com)
There is an association of polymorphisms of the calcium channel alpha1-subunit gene with thyrotoxic periodic paralysis. (medscape.com)
SNP association with ICH presentation persisted after adjusting for age, sex, BAVM size, and deep venous drainage. (kaiserpermanente.org)

Results Using a hierarchical assembly approach with long-read sequencing technologies, we assembled nine IGC haplotypes from 48 pre-selected BACs. (usda.gov)

Haplotype 1 carriers had a significantly better prognosis. (eur.nl)

Thus, findings of the present study indicated 12 SNPs of MBL2 gene to be functionally important. (springeropen.com)
A study on SNPs that influence SARS-CoV-2 susceptibility and severity may provide a predictive tool for COVID-19 outcomes and improve the customized coronavirus treatment. (bvsalud.org)

Anatomy19

Organisms9

Diseases13

Chemicals and Drugs53

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

Psychiatry and Psychology2

Phenomena and Processes108

Disciplines and Occupations7

Anthropology, Education, Sociology and Social Phenomena2

Technology, Industry, Agriculture1

Humanities1

Information Science8

Named Groups10

Health Care18

Geographicals18

Variants17

Genotype10

Linkage disequilibrium1

Genome15

Locus2

Sequences9

Intronic4

Genotypes4

Certain haplotypes2

Functional9

Mutations5

Logistic regression1

Sequence8

Genomic2

Promoter6

Loci4

Allelic2

Diploid organism1

Single12

Polymorphic1

Susceptibility factor1

Receptor6

Significantly associated5

Minor6

Polymorphism2

Frequency4

20211

Microarray1

Target genes2

Markers5

Pharmacological1

Encodes1

Characteristics2

Introns1

Statistical1

Human7

BRCA22

Homozygous1

Frequencies1

Chromosome1

Analysis4

Regulatory2

Common3

Data7

Metabolic1

Serum1

Mutation1

Variations1

Specific3

Previously2

Patients3

Association3

Results1

Carriers1

Study2