Works matching DE "GENETIC databases"

Results: 1183

Investigation of Genetic Variants Associated with Alzheimer Disease in Parkinson Disease Cognition.

Published in:

Journal of Parkinson's Disease, 2016, v. 6, n. 1, p. 119, doi. 10.3233/JPD-150706

By:

Barrett, Matthew J.;
Koeppel, Alexander F.;
Flanigan, Joseph L.;
Turner, Stephen D.;
Worrall, Bradford B.

Publication type:

Article

Causal Relationship Between Immune Cells and Venous Thromboembolism: A Bidirectional Two-Sample Mendelian Randomization Study.

Published in:

Vascular Health & Risk Management, 2025, v. 21, p. 181, doi. 10.2147/VHRM.S497476

By:

Su, Qiwen;
Li, Yue;
Wen, Cheng;
Li, Lilong;
Ye, Qianling;
Chen, Ming;
Xie, Linyang;
Hu, Chenming;
Wu, Huaping

Publication type:

Article

Evaluation of the Association Between Postpartum Hemorrhage and Antidepressant Use: A Mendelian Randomization Study.

Published in:

Drugs - Real World Outcomes, 2025, v. 12, n. 2, p. 325, doi. 10.1007/s40801-025-00490-1

By:

Chen, Zhenzhen;
Lv, Qingqing;
Lin, Shiteng;
Lin, Wanlong;
Zhuang, Wei

Publication type:

Article

The Promise of Environmental RNA Research Beyond mRNA.

Published in:

Molecular Ecology, 2025, v. 34, n. 12, p. 1, doi. 10.1111/mec.17787

By:

Ahi, Ehsan Pashay;
Schenekar, Tamara

Publication type:

Article

Causal relationships between immune cell subtypes and risk of Pneumocystis pneumonia and lung cancer: a Mendelian randomization study.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02875-8

By:

Tian, Zhongqiu;
Tang, Wenfang;
Wen, Long;
He, Zhixiong;
Fang, Yanyan;
Fan, Yubin;
Peng, Yan;
Xu, Linyan;
Li, Bin;
Chen, Xuelian

Publication type:

Article

ADLİ AMAÇLI ULUSAL DNA VERİ BANKASI KURULMASI İLE İLGİLİ BİLGİ DÜZEYİNİN ÖLÇÜLMESİ.

Published in:

Journal of Security Sciences / Güvenlik Bilimleri Dergisi, 2025, v. 14, n. 1, p. 389, doi. 10.28956/gbd.1515666

By:

GÜLEKÇİ, Yakup;
BEKİROĞLU, Fatma Ebru;
YÜKSEK, Ufuk

Publication type:

Article

Mitochondrial markers (cytochrome c oxidase subunit I and 16S ribosomal RNA) as supporting biomarkers for wild bird identification.

Published in:

Veterinary World, 2025, v. 18, n. 5, p. 1389, doi. 10.14202/vetworld.2025.1389-1399

By:

Marín-Villa, Julián;
López-Herrera, Albeiro;
Gómez-Ruiz, Daisy A.;
Restrepo-Rodas, Diana C.;
Sánchez-Rodríguez, Geraldine;
Úsuga-Monroy, Cristina

Publication type:

Article

The Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption.

Published in:

Genes, 2025, v. 16, n. 5, p. 535, doi. 10.3390/genes16050535

By:

Zawadzki, Jan;
Grenda, Ryszard;
Madej-Pilarczyk, Agnieszka;
Ciara, Elżbieta

Publication type:

Article

Letter to the editor regarding Duan et al, "CYP4A22 loss-of-function causes a new type of vitamin D–dependent rickets (VDDR1C)".

Published in:

2025

By:

Levine, Michael A;
Li, Dong;
Roizen, Jeffrey;
Weber, David

Publication type:

Letter

NCAPG2 is a diagnostic biomarker associated with immune infiltration in cholangiocarcinoma.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02809-4

By:

Huang, Zhaojun;
Niu, Xiaohang;
Zhang, Mingjin;
Wei, Xiaoming

Publication type:

Article

The complete mitochondrial genomes of the freshwater mussel Ortmanniana ligamentina (Lamarck, 1819): male and female mitotypes.

Published in:

Mitochondrial DNA: Resources, 2025, v. 10, n. 6, p. 430, doi. 10.1080/23802359.2025.2500528

By:

Klymus, Katy;
Coombs, Jason;
Ruiz-Ramos, Dannise;
Maloy, Aaron;
Barnhart, Christopher

Publication type:

Article

Making up humans.

Published in:

2022

By:

Miller, Toby;
Ahluwalia, Pal

Publication type:

Editorial

Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 3, p. 763, doi. 10.1007/s10815-025-03402-y

By:

Van Der Kelen, Annelore;
Uyttebroeck, Sophie;
Van de Voorde, Stefanie;
Picchetta, Ludovica;
Segers, Ingrid;
Vlaeminck, Jelle;
Dequeker, Bart Johan H.;
Giron, Philippe;
Capalbo, Antonio;
Verpoest, Willem;
Hes, Frederik J.;
Verdyck, Pieter;
Gheldof, Alexander

Publication type:

Article

Fertility care in the era of commercial direct-to-consumer home DNA kits: issues to ponder.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 3, p. 689, doi. 10.1007/s10815-020-01711-y

By:

Rotshenker-Olshinka, Keren;
Dahan, Michael H.

Publication type:

Article

Large interrelated clusters of repetitive elements (REs) and RE arrays predominantly represent reference mouse chromosome Y.

Published in:

Chromosome Research, 2013, v. 21, n. 1, p. 15, doi. 10.1007/s10577-012-9334-8

By:

Lee, Kang-Hoon;
Kim, Woo-Chan;
Shin, Kyung-Seop;
Roh, Jeong-Kyu;
Cho, Dong-Ho;
Cho, Kiho

Publication type:

Article

Molecular characterization and phylogenetics of Indian polychaete fauna: scope for implementation in ecological monitoring.

Published in:

Aquatic Ecology, 2019, v. 53, n. 4, p. 665, doi. 10.1007/s10452-019-09717-0

By:

Vijapure, Tejal;
Sukumaran, Soniya;
Manohar, Cathrine S.

Publication type:

Article

Autosomal and Y-STR genetic database from a population of the Spanish Civil War (1936–1939) and the postwar period.

Published in:

International Journal of Legal Medicine, 2025, v. 139, n. 3, p. 1063, doi. 10.1007/s00414-025-03422-4

By:

López-Parra, Ana María;
Palomo-Díez, Sara;
Gomes, Cláudia;
Baeza, Carlos;
Lozano, Manuel;
Bravo, Sara;
López-Matayoshi, Cesar;
Arroyo-Pardo, Eduardo

Publication type:

Article

Genetic characterization of paternal lineages by Y-STR in three sample populations in Northeastern Brazil.

Published in:

International Journal of Legal Medicine, 2025, v. 139, n. 2, p. 541, doi. 10.1007/s00414-025-03407-3

By:

do Monte, Silvana Magna Cavalcante;
Sampaio, Bruno;
Torres, Júlio César Nogueira;
dos Santos Silva, Abigail Marcelino;
Pereira, Bárbara Natieli Silva;
Miranda, Aparecida Jayane Sampaio;
Silva, Bruno Almeida;
Rocha, Teresa Cristina Lima Da;
Rocha, Samyra Maria Vieira Brasil;
de Menezes Sobreira, Ana Cláudia;
Rabenhorst, Sílvia Helena Barem;
de Moura Neto, Rodrigo Soares;
de Queiroz Balbino, Valdir

Publication type:

Article

Genetic variation (population database) at 20 autosomal STR loci in the population of Rajasthan (north-western India).

Published in:

International Journal of Legal Medicine, 2020, v. 134, n. 5, p. 1667, doi. 10.1007/s00414-020-02280-6

By:

Kumar, Anand;
Kumar, Rajesh;
Kumawat, R. K.;
Tilawat, Ajay;
Shrivastava, Pankaj;
Chaubey, Gyaneshwer

Publication type:

Article

Genetics analysis of 38 STR loci in Uygur population from Southern Xinjiang of China.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 3, p. 687, doi. 10.1007/s00414-015-1270-7

By:

Yuan, Li;
Liu, Haibo;
Liao, Qinxiang;
Xu, Xu;
Chen, Wen;
Hao, Shicheng

Publication type:

Article

Haplotype diversity of 23 Y-chromosomal STRs in a population sample from the Federal District (Brazil)-a territory that arose from nothing.

Published in:

International Journal of Legal Medicine, 2014, v. 128, n. 6, p. 945, doi. 10.1007/s00414-013-0960-2

By:

Barra, Gustavo;
Chianca, Camilla;
Santa Rita, Ticiane;
Velasco, Lara;
Souza, Claudia

Publication type:

Article

DIBS: a repository of disordered binding sites mediating interactions with ordered proteins.

Published in:

Bioinformatics, 2018, v. 34, n. 3, p. 535, doi. 10.1093/bioinformatics/btx640

By:

Schad, Eva;
Fichó, Erzsébet;
Pancsa, Rita;
Simon, István;
Dosztányi, Zsuzsanna;
Mészáros, Bálint

Publication type:

Article

A comprehensive assessment of long intrinsic protein disorder from the DisProt database.

Published in:

Bioinformatics, 2018, v. 34, n. 3, p. 445, doi. 10.1093/bioinformatics/btx590

By:

Necci, Marco;
Piovesan, Damiano;
Dosztányi, Zsuzsanna;
Tompa, Peter;
Tosatto, Silvio C E

Publication type:

Article

AQUa: an adaptive framework for compression of sequencing quality scores with random access functionality.

Published in:

Bioinformatics, 2018, v. 34, n. 3, p. 425, doi. 10.1093/bioinformatics/btx607

By:

Paridaens, Tom;
Wallendael, Glenn Van;
Neve, Wesley De;
Lambert, Peter

Publication type:

Article

Sparse redundancy analysis of high-dimensional genetic and genomic data.

Published in:

Bioinformatics, 2017, v. 33, n. 20, p. 3228, doi. 10.1093/bioinformatics/btx374

By:

Csala, Attila;
Voorbraak, Frans P. J. M.;
Zwinderman, Aeilko H.;
Hof, Michel H.

Publication type:

Article

Epigenomic annotation-based interpretation of genomic data: from enrichment analysis to machine learning.

Published in:

Bioinformatics, 2017, v. 33, n. 20, p. 3323, doi. 10.1093/bioinformatics/btx414

By:

Dozmorov, Mikhail G.

Publication type:

Article

Panoptes: web-based exploration of large scale genome variation data.

Published in:

Bioinformatics, 2017, v. 33, n. 20, p. 3243, doi. 10.1093/bioinformatics/btx410

By:

Vauterin, Paul;
Jeffery, Ben;
Miles, Alistair;
Amato, Roberto;
Hart, Lee;
Wright, Ian;
Kwiatkowski, Dominic

Publication type:

Article

BioQueue: a novel pipeline framework to accelerate bioinformatics analysis.

Published in:

Bioinformatics, 2017, v. 33, n. 20, p. 3286, doi. 10.1093/bioinformatics/btx403

By:

Li Yao;
Heming Wang;
Yuanyuan Song;
Guangchao Sui

Publication type:

Article

Pheno4J: a gene to phenotype graph database.

Published in:

Bioinformatics, 2017, v. 33, n. 20, p. 3317, doi. 10.1093/bioinformatics/btx397

By:

Mughal, Sajid;
Moghul, Ismail;
Jing Yu;
Clark, Tristan;
Gregory, David S.;
Pontikos, Nikolas

Publication type:

Article

rqt: an R package for gene-level meta-analysis.

Published in:

Bioinformatics, 2017, v. 33, n. 19, p. 3129, doi. 10.1093/bioinformatics/btx395

By:

Zhbannikov, Ilya Y.;
Arbeev, Konstantin G.;
Yashin, Anatoliy I.

Publication type:

Article

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Published in:

Bioinformatics, 2017, v. 33, n. 15, p. 2421, doi. 10.1093/bioinformatics/btx147

By:

Pontikos, Nikolas;
Jing Yu;
Moghul, Ismail;
Withington, Lucy;
Blanco-Kelly, Fiona;
Vulliamy, Tom;
Wong, Tsz Lun Ernest;
Murphy, Cian;
Cipriani, Valentina;
Fiorentino, Alessia;
Arno, Gavin;
Greene, Daniel;
Jacobsen, Julius O. B.;
Clark, Tristan;
Gregory, David S.;
Nemeth, Andrea M.;
Halford, Stephanie;
Inglehearn, Chris F.;
Downes, Susan;
Black, Graeme C.

Publication type:

Article

MetaSpark: a spark-based distributed processing tool to recruit metagenomic reads to reference genomes.

Published in:

Bioinformatics, 2017, v. 33, n. 7, p. 1090, doi. 10.1093/bioinformatics/btw750

By:

Wei Zhou;
Ruilin Li;
Shuo Yuan;
Chang Chun Liu;
Shaowen Yao;
Jing Luo;
Beifang Niu

Publication type:

Article

PRINCESS: Privacy-protecting Rare disease International Network Collaboration via Encryption through Software guard extensionS.

Published in:

Bioinformatics, 2017, v. 33, n. 6, p. 871, doi. 10.1093/bioinformatics/btw758

By:

Feng Chen;
Shuang Wang;
Xiaoqian Jiang;
Sijie Ding;
Yao Lu;
Jihoon Kim;
Sahinalp, S. Cenk;
Chisato Shimizu;
Burns, Jane C.;
Wright, Victoria J.;
Png, Eileen;
Hibberd, Martin L.;
Lloyd, David D.;
Hai Yang;
Telenti, Amalio;
Bloss, Cinnamon S.;
Fox, Dov;
Lauter, Kristin;
Ohno-Machado, Lucila

Publication type:

Article

PhagesDB: the actinobacteriophage database.

Published in:

Bioinformatics, 2017, v. 33, n. 5, p. 784, doi. 10.1093/bioinformatics/btw711

By:

Russell, Daniel A.;
Hatfull, Graham F.

Publication type:

Article

Network-based analysis of omics data: the LEAN method.

Published in:

Bioinformatics, 2017, v. 33, n. 5, p. 701, doi. 10.1093/bioinformatics/btw676

By:

Gwinner, Frederik;
Boulday, Gwénola;
Vandiedonck, Claire;
Arnould, Minh;
Cardoso, Cécile;
Nikolayeva, Iryna;
Guitart-Pla, Oriol;
Denis, Cécile V.;
Christophe, Olivier D.;
Beghain, Johann;
Tournier-Lasserve, Elisabeth;
Schwikowski, Benno

Publication type:

Article

PhenoScanner: a database of human genotype-phenotype associations.

Published in:

2016

By:

Staley, James R.;
Blackshaw, James;
Kamat, Mihir A.;
Ellis, Steve;
Surendran, Praveen;
Sun, Benjamin B.;
Paul, Dirk S.;
Freitag, Daniel;
Burgess, Stephen;
Danesh, John;
Young, Robin;
Butterworth, Adam S.

Publication type:

Product Review

Pathway analysis by randomization incorporating structure--PARIS: an update.

Published in:

Bioinformatics, 2016, v. 32, n. 15, p. 2361, doi. 10.1093/bioinformatics/btw130

By:

Butkiewicz, Mariusz;
Bailey, Jessica N. Cooke;
Frase, Alex;
Dudek, Scott;
Yaspan, Brian L.;
Ritchie, Marylyn D.;
Pendergrass, Sarah A.;
Haines, Jonathan L.

Publication type:

Article

chromPlot: visualization of genomic data in chromosomal context.

Published in:

Bioinformatics, 2016, v. 32, n. 15, p. 2366, doi. 10.1093/bioinformatics/btw137

By:

Oróstica, Karen Y.;
Verdugo, Ricardo A.

Publication type:

Article

Coala: an R framework for coalescent simulation.

Published in:

Bioinformatics, 2016, v. 32, n. 12, p. 1903, doi. 10.1093/bioinformatics/btw098

By:

Staab, Paul R.;
Metzler, Dirk

Publication type:

Article

Representation and inference of cellular architecture for metabolic reconstruction and modeling.

Published in:

Bioinformatics, 2016, v. 32, n. 7, p. 1074, doi. 10.1093/bioinformatics/btv702

By:

Paley, Suzanne;
Krummenacker, Markus;
Karp, Peter D.

Publication type:

Article

LocusExplorer: a user-friendly tool for integrated visualization of human genetic association data and biological annotations.

Published in:

Bioinformatics, 2016, v. 32, n. 6, p. 949, doi. 10.1093/bioinformatics/btv690

By:

Dadaev, Tokhir;
Leongamornlert, Daniel A.;
Saunders, Edward J.;
Eeles, Rosalind;
Kote-Jarai, Zsofia

Publication type:

Article

MaxBin 2.0: an automated binning algorithm to recover genomes from multiple metagenomic datasets.

Published in:

Bioinformatics, 2016, v. 32, n. 4, p. 605, doi. 10.1093/bioinformatics/btv638

By:

Yu-Wei Wu;
Simmons, Blake A.;
Singer, Steven W.

Publication type:

Article

PDID: database of molecular-level putative protein-drug interactions in the structural human proteome.

Published in:

Bioinformatics, 2016, v. 32, n. 4, p. 579, doi. 10.1093/bioinformatics/btv597

By:

Chen Wang;
Gang Hu;
Kui Wang;
Brylinski, Michal;
Lei Xie;
Kurgan, Lukasz

Publication type:

Article

PRIMUS: improving pedigree reconstruction using mitochondrial and Y haplotypes.

Published in:

Bioinformatics, 2016, v. 32, n. 4, p. 596, doi. 10.1093/bioinformatics/btv618

By:

Staples, Jeffrey;
Ekunwe, Lynette;
Lange, Ethan;
Wilson, James G.;
Nickerson, Deborah A.;
Below, Jennifer E.

Publication type:

Article

LOLA: enrichment analysis for genomic region sets and regulatory elements in R and Bioconductor.

Published in:

Bioinformatics, 2016, v. 32, n. 4, p. 587, doi. 10.1093/bioinformatics/btv612

By:

Sheffield, Nathan C.;
Bock, Christoph

Publication type:

Article

Detecting dispersed duplications in high-throughput sequencing data using a database-free approach.

Published in:

Bioinformatics, 2016, v. 32, n. 4, p. 505, doi. 10.1093/bioinformatics/btv621

By:

Kroon, M.;
Lameijer, E. W.;
Lakenberg, N.;
Hehir-Kwa, J. Y.;
Thung, D. T.;
Slagboom, P. E.;
Kok, J. N.;
Ye, K.

Publication type:

Article

BGT: efficient and flexible genotype query across many samples.

Published in:

Bioinformatics, 2016, v. 32, n. 4, p. 590, doi. 10.1093/bioinformatics/btv613

By:

Heng Li

Publication type:

Article

openBIS ELN-LIMS: an open-source database for academic laboratories.

Published in:

Bioinformatics, 2016, v. 32, n. 4, p. 638, doi. 10.1093/bioinformatics/btv606

By:

Barillari, Caterina;
Fuentes-Serna, Juan Mariano;
Ottoz, Diana S. M.;
Ramakrishnan, Chandrasekhar;
Rinn, Bernd;
Rudolf, Fabian

Publication type:

Article

An efficient algorithm for the extraction of HGVS variant descriptions from sequences.

Published in:

Bioinformatics, 2015, v. 31, n. 23, p. 3751, doi. 10.1093/bioinformatics/btv443

By:

Vis, Jonathan K.;
Vermaat, Martijn;
Taschner, Peter E. M.;
Kok, Joost N.;
Laros, Jeroen F. J.

Publication type:

Article

Repeat- and error-aware comparison of deletions.

Published in:

Bioinformatics, 2015, v. 31, n. 18, p. 2947, doi. 10.1093/bioinformatics/btv304

By:

Wittler, Roland;
Marschall, Tobias;
Schönhuth, Alexander;
Mäkinen, Veli

Publication type:

Article