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Functional Variants sentence examples within whole exome sequencing



Clinical and genetic characteristics of coronary artery disease in Chinese young adults: Rationale and design of the prospective Genetic characteristics of coRonary Artery disease in ChiNese young aDults (GRAND) study



271-OR: Whole-Exome Sequence Identifies Potentially Functional Rare Variants in Bardet-Biedl Syndrome (BBS) Genes that Associate with Obesity in American Indians


Functional Variants sentence examples within Potential Functional Variants



Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease



Targeted Sequencing and Integrative Analysis to Prioritise Candidate Genes in Neurodevelopmental Disorders


Functional Variants sentence examples within Potentially Functional Variants



Identification and in silico characterization of structural and functional impacts of genetic variants in milk protein genes in the Zebu breeds Guzerat and Gyr.



Genetic variants in STAT4 and their interactions with environmental factors for the incidence of hepatocellular carcinoma.




Functional Variants sentence examples within Candidate Functional Variants



Integration of Alzheimer’s disease genetics and myeloid genomics identifies disease risk regulatory elements and genes



Aotearoa New Zealand Māori and Pacific population-specific gout risk variants: CLNK is a separate risk gene at the SLC2A9 locus.


Functional Variants sentence examples within Putative Functional Variants



Cross-Disorder Analysis of De Novo Variants Increases the Power of Prioritising Candidate Genes



Identifying Putative Susceptibility Genes and Evaluating Their Associations with Somatic Mutations in Human Cancers.


Functional Variants sentence examples within Novel Functional Variants



A synthetic RNA-mediated evolution system in yeast



Identification of loci associated with susceptibility to bovine paratuberculosis and with the dysregulation of the MECOM, eEF1A2, and U1 spliceosomal RNA expression


Functional Variants sentence examples within Rare Functional Variants



An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients



CYP2C9 Variations and Their Pharmacogenetic Implications Among Diverse South Asian Populations


Functional Variants sentence examples within Two Functional Variants



Are functional variants of the microRNA-146a gene associated with primary knee OA? Evidence in Mexican mestizo population.



SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate GREM1 gene expression


Functional Variants sentence examples within Common Functional Variants



Transcriptome-based polygenic score links depression-related corticolimbic gene expression changes to sex-specific brain morphology and depression risk



Genetic landscape of 125 pharmacogenes in Chinese from the Chinese Millionome Database


Functional Variants sentence examples within Revealed Functional Variants



Variants at the ASIP locus contribute to coat color darkening in Nellore cattle



Fulminant arterial vasculitis as an unusual complication of disseminated staphylococcal disease due to the emerging CC1 methicillin-susceptible Staphylococcus aureus clone: a case report


Functional Variants sentence examples within Predict Functional Variants



Predicting Epigenomic Functions of Genetic Variants in the Context of Neurodevelopment via Deep Transfer Learning



Predicting functional variants in enhancer and promoter elements using RegulomeDB


Functional Variants sentence examples within Identifying Functional Variants



Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3’UTR in Amyotrophic Lateral Sclerosis



Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification


Functional Variants sentence examples within These Functional Variants



A combination of genome‐wide and transcriptome‐wide association studies reveals genetic elements leading to male sterility during high temperature stress in cotton



Multiple functional variants in the IL1RL1 region are pretransplant markers for risk of GVHD and infection deaths.


Functional Variants sentence examples within Predicted Functional Variants



In-vitro characterization of coding variants with predicted functional implications in the efflux transporter multidrug resistance protein 4 (MRP4, ABCC4).



Functional Gene Variants in Chronic Obstructive Pulmonary Disease: The Search Continues


Functional Variants sentence examples within Different Functional Variants



NGS study of glucocorticoid response genes in inflammatory bowel disease patients



De novo ATP1A3 variants cause polymicrogyria


Functional Variants sentence examples within functional variants involved



Computational Assessment of the Regulation-Modulating Potential for Noncoding Variants



Beyond the Big Five: Investigating Myostatin Structure, Polymorphism and Expression in Camelus dromedarius


Functional Variants sentence examples within functional variants may



Transmembrane serine protease 2 Polymorphisms and Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Type 2 Infection: A German Case-Control Study



Sex differences in cardio-oncology: utilizing a genetic variant as a therapeutic target doxorubicin-induced cardiomyopathy


Functional Variants sentence examples within functional variants biologically



Transcriptional-Regulatory Convergence Across Functional MDD Risk Variants Identified by Massively Parallel Reporter Assays



Transcriptional-regulatory convergence across functional MDD risk variants identified by massively parallel reporter assays


Functional Variants sentence examples within functional variants relevant



FIVEx: an interactive multi-tissue eQTL browser



FIVEx: an interactive eQTL browser across public datasets.


Functional Variants sentence examples within functional variants within



Perspective on Beyond Statistical Significance: Finding Meaningful Effects



Functional Gene Variants in Chronic Obstructive Pulmonary Disease: The Search Continues


Functional Variants sentence examples within functional variants regulating



CRISPRa screen on a genetic risk locus shared by multiple autoimmune diseases identifies a dysfunctional enhancer that affects IRF8 expression through cooperative lncRNA and DNA methylation machinery



Ditching candidate gene association studies: lessons from psychiatric genetics


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Large-scale genetic analyses in an understudied disease: haemorrhoidal disease



Research Note: Fine mapping of sequence variants associated with body weight of Lueyang black-boned chicken in the CCKAR gene


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10.21203/rs.3.rs-543958/v1

Hybrid allele-specific ChIP-Seq analysis links variation in transcription factor binding to traits in maize


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10.1038/s41568-021-00358-w

Mitochondrial DNA variation and cancer.


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10.1371/journal.pgen.1009496

Multiplexed assays reveal effects of missense variants in MSH2 and cancer predisposition


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10.3389/fgene.2021.667231

Transmembrane serine protease 2 Polymorphisms and Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Type 2 Infection: A German Case-Control Study



N-Glycosylation as a Tool to Study Antithrombin Secretion, Conformation, and Function


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10.1101/2021.01.06.425527

A multi-dimensional integrative scoring framework for predicting functional variants in the human genome


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10.23736/S2724-6507.21.03460-X

Pro-inflammatory profile of visceral adipose tissue and oxidative stress in severe obese patients carrying the variant rs4612666 C of NLRP3 gene.


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10.1038/s41439-021-00153-x

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene



Radiographic features and behaviors of neuroendocrine tumors: can we judge a book by its cover?


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10.1101/2021.03.05.434177

Transcriptional-Regulatory Convergence Across Functional MDD Risk Variants Identified by Massively Parallel Reporter Assays


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10.1186/s40246-021-00307-6

Convergent lines of evidence support BIN1 as a risk gene of Alzheimer’s disease


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10.1016/j.fsigen.2021.102478

Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy.


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10.3389/fcell.2021.641831

Somatic and de novo Germline Variants of MEDs in Human Neural Tube Defects



Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations


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10.1101/2021.01.07.20249042

Analysis of 200,000 exome-sequenced UK Biobank subjects fails to identify genes influencing probability of developing a mood disorder resulting in psychiatric referral


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10.1371/journal.pone.0251289

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1


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10.1101/2021.01.08.21249453

Weighted burden analysis in 200,000 exome-sequenced subjects characterises rare variant effects on risk of type 2 diabetes


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10.1101/2021.01.22.426874

FIVEx: an interactive multi-tissue eQTL browser


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10.1007/978-1-0716-1201-9_8

Association Mapping in Plants.


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10.3389/fimmu.2021.600598

A Functional Variant rs3093023 in CCR6 Is Associated With IgA Nephropathy by Regulating Th17 Cells in a North Han Chinese Population


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10.1038/s41398-021-01493-6

Transcriptional-regulatory convergence across functional MDD risk variants identified by massively parallel reporter assays


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10.1371/journal.pcbi.1008736

Generating functional protein variants with variational autoencoders


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10.12797/LV.16.2021.31.02

Opisy interiekcji w wybranych XIX-wiecznych słownikach języka polskiego



The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China


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10.1016/b978-0-12-820583-9.00005-1

Lupus susceptibility genes


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10.1093/bioinformatics/btab614

FIVEx: an interactive eQTL browser across public datasets.


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10.1007/s00262-021-02877-9

Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival



Perspective on Beyond Statistical Significance: Finding Meaningful Effects



Identification of Lapatinib Derivatives and Analogs to Control Metastatic Breast Cancer-specific to South Asian Population-a Pharmacogenomic Approach



Hepatocellular carcinoma risk variant modulates lncRNA HLA-DQB1-AS1 expression via a long-range enhancer-promoter interaction.



Theories behind the effect of starch- and sucrose-reduced diets on gastrointestinal symptoms in irritable bowel syndrome


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10.3389/fgene.2021.630542

Initial Insights Into the Genetic Epidemiology of SARS-CoV-2 Isolates From Kerala Suggest Local Spread From Limited Introductions


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10.1093/rheumatology/keab545

Genetic-epidemiological analysis of hypouricemia from 4,993 Japanese on nonfunctional variants of URAT1/SLC22A12 gene.


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10.1038/s41598-021-95669-1

Rare and common variant discovery by whole-genome sequencing of 101 Thoroughbred racehorses


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10.1093/humrep/deab127.044

P-117 Pre-selected for an award: Bioinformatic analysis of NRF2 in the study of association of NRF2 variant and male infertility related to smoking status


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10.1097/MPH.0000000000002120

Underlying CTLA4 Deficiency in a Patient With Juvenile Idiopathic Arthritis and Autoimmune Lymphoproliferative Syndrome Features Successfully Treated With Abatacept-A Case Report.


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10.1093/bioinformatics/btaa970

Combining artificial intelligence: deep learning with Hi-C data to predict the functional effects of non-coding variants



Novel FCN2 Variants and Haplotypes are Associated with Rheumatic Heart Disease.


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10.1136/ANNRHEUMDIS-2021-EULAR.2084

POS0354 DETECTION OF ABCG2 VARIANTS IN ENCODING OF URATE TRANSPORTERS ASSOCIATED WITH THE HYPERURICEMIA IN HAEMODIALYSIS PATIENTS



A pharmacogenetics study of platinum-based chemotherapy in lung cancer: ABCG2 polymorphism and its genetic interaction with SLC31A1 are associated with response and survival


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10.1101/2021.06.11.448156

CRISPRa screen on a genetic risk locus shared by multiple autoimmune diseases identifies a dysfunctional enhancer that affects IRF8 expression through cooperative lncRNA and DNA methylation machinery


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10.1093/humrep/deab130.116

P–117 Bioinformatic analysis of NRF2 in the study of association of NRF2 variant and male infertility related to smoking status



Deacylated tRNA Accumulation Is a Trigger for Bacterial Antibiotic Persistence Independent of the Stringent Response



Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms


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10.1038/s42255-021-00361-3

Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.



Mutational Analysis of Mitochondrial tRNA Genes in 200 Patients with Type 2 Diabetes Mellitus


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10.1101/2021.07.10.451798

CADD-SV – a framework to score the effects of structural variants in health and disease


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10.1093/rheumatology/keab327

Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.



Prediction of disease‐associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features


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10.3390/biomedicines9081012

A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals


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10.1016/j.domaniend.2021.106631

Chicken C/EBPζ gene: Expression profiles, association analysis, and identification of functional variants for abdominal fat.


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10.1080/15257770.2020.1871488

Association between common variants in vitamin D receptor gene and susceptibility to Non-Hodgkin’s lymphoma: a case-control study


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10.1590/1516-4446-2020-1646

Ditching candidate gene association studies: lessons from psychiatric genetics



Editorial: understanding IBS pathophysiology through “converging channels” of research


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10.1097/YPG.0000000000000282

Analysis of 200 000 exome-sequenced UK Biobank subjects fails to identify genes influencing probability of developing a mood disorder resulting in psychiatric referral


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10.1101/2021.01.20.21250151

Weighted burden analysis in 200 000 exome-sequenced UK Biobank subjects characterises effects of rare genetic variants on BMI



Functional Variants
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