KRAS mutation allele frequency threshold alters prognosis in right‐sided resected pancreatic cancer
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Surgical Oncology"
DOI: 10.1002/jso.26860
Abstract: Next‐generation sequencing (NGS) provides information on genetic mutations and mutant allele frequency in tumor specimens. We investigated the prognostic significance of KRAS mutant allele frequency in patients with right‐sided pancreatic ductal adenocarcinoma (PDAC) treated with… read more here.
Keywords: right sided; frequency; mutation allele; allele frequency ... See more keywords
Forensic parameters and allele frequency distributions of 16 STR in a Paraguayan population
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Legal Medicine"
DOI: 10.1007/s00414-019-02093-2
Abstract: Paraguay is a Latin American country located in the central zone of South America. There is no official data on the ethnic composition of its population. The European colonization and the wars through which the… read more here.
Keywords: frequency distributions; distributions str; parameters allele; population ... See more keywords
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.08.005
Abstract: Advances in high-throughput DNA sequencing have revolutionized the discovery of variants in the human genome; however, interpreting the phenotypic effects of those variants is still a challenge. While several computational approaches to predict variant impact… read more here.
Keywords: disease relevant; tool; disease; prediction ... See more keywords
Single step strategy for estimating unknown STR allele frequencies in a population
Sign Up to like & getrecommendations! Published in 2019 at "Forensic Science International: Genetics Supplement Series"
DOI: 10.1016/j.fsigss.2019.10.155
Abstract: Abstract Constant growth of forensic DNA databases requires new STR markers to be developed, tested and validated. Aiming to simplify the process of obtaining allele frequency distributions of new STR loci included in new megaplexes,… read more here.
Keywords: single step; allele frequencies; allele frequency; dna ... See more keywords
MEFV gene allele frequency and genotype distribution in 3230 patients' analyses by next generation sequencing methods.
Sign Up to like & getrecommendations! Published in 2022 at "Gene"
DOI: 10.1016/j.gene.2022.146447
Abstract: Familial Mediterranean Fever (FMF, OMIM ID: 249100) is the most common autoinflammatory, autosomal recessive disease caused by mutations in the MEFV gene. It is widespread in the Mediterranean, primarily among Turkish, Armenian, Arab and Jewish.… read more here.
Keywords: gene allele; mefv gene; genotype; 3230 patients ... See more keywords
Allele frequency of nonsense mutation responsible for hereditary nephropathy in English cocker spaniel dogs
Sign Up to like & getrecommendations! Published in 2020 at "Veterinary and Animal Science"
DOI: 10.1016/j.vas.2020.100114
Abstract: Hereditary nephropathy is a primary progressive glomerular disease in dogs associated with the c.115A>T mutation in the COL4A4 gene in English cocker spaniel (ECS) dogs. The disease is inherited in an autosomal recessive manner. Hereditary… read more here.
Keywords: cocker spaniel; mutation; english cocker; hereditary nephropathy ... See more keywords
Effects of marker density and minor allele frequency on genomic prediction for growth traits in Chinese Simmental beef cattle
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Integrative Agriculture"
DOI: 10.1016/s2095-3119(16)61474-0
Abstract: Abstract Genomic selection has been demonstrated as a powerful technology to revolutionize animal breeding. However, marker density and minor allele frequency can affect the predictive ability of genomic estimated breeding values (GEBVs). To investigate the… read more here.
Keywords: density; minor allele; predictive ability; ability ... See more keywords
A comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-04957-2
Abstract: Alpha (α)-thalassaemia is one of the most prevalent hereditary blood disorders, commonly affecting Southeast Asian people, with the highest incidence (30–40%) being seen in northern Thailand. However, this high incidence was estimated without consideration of… read more here.
Keywords: alpha thalassaemia; northern thailand; thalassaemia; allele frequency ... See more keywords
Human platelet antigen 1, 2 and 5 gene polymorphisms in Egyptians and their potential association with susceptibility to immune thrombocytopenic purpura in Egyptian patients
Sign Up to like & getrecommendations! Published in 2018 at "Hematology"
DOI: 10.1080/10245332.2017.1365435
Abstract: ABSTRACT Objectives: This study determined the incidence of HPA1, HPA2 and HPA5 polymorphisms in 120 Egyptian immune thrombocytopenic purpura (ITP) patients and 120 healthy Egyptian subjects. Methods: Human platelet antigen (HPA) genotyping was done using… read more here.
Keywords: frequency; platelet antigen; immune thrombocytopenic; human platelet ... See more keywords
Allele Frequency of ACE2 Intron Variants and Its Association with Blood Pressure.
Sign Up to like & getrecommendations! Published in 2020 at "DNA and cell biology"
DOI: 10.1089/dna.2020.5804
Abstract: Angiotensin-converting enzyme 2 (ACE2) is known as the counter-regulator of the renin-angiotensin system, it cleaves angiotensin II to render Ag 1-7, a potent vasodilator with multiple roles in cardiovascular protection. A few studies have pinpointed… read more here.
Keywords: blood pressure; ace2; ace2 intron; intron variants ... See more keywords
Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank.
Sign Up to like & getrecommendations! Published in 2021 at "Human molecular genetics"
DOI: 10.1093/hmg/ddab114
Abstract: To investigate cross-ancestry genetics of complex traits, we conducted a phenome-wide analysis of loci with heterogeneous effects across African, Admixed-American, Central/South Asian, East Asian, European, and Middle Eastern participants of UK Biobank (N = 441 331). Testing 843… read more here.
Keywords: genome wide; association; cross ancestry; ancestry ... See more keywords