Works matching DE "HETEROZYGOSITY"

Results: 3834

Case Study: Genetic and In Silico Analysis of Familial Pancreatitis.

Published in:

Genes, 2025, v. 16, n. 5, p. 603, doi. 10.3390/genes16050603

By:

Sharma, Yash;
Good, Deborah J.

Publication type:

Article

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan.

Published in:

Neurogenetics, 2006, v. 7, n. 3, p. 133, doi. 10.1007/s10048-006-0041-5

By:

Di Fonzo, Alessio;
Yah-Huei Wu-Chou;
Chin-Song Lu;
van Doeselaar, Marina;
Simons, Erik J.;
Rohé, Christan F.;
Hsiu-Chen Chang;
Rou-Shayn Chen;
Yi-Hsin Weng;
Vanacore, Nicola;
Breedveld, Guido J.;
Oostra, Ben A.;
Bonifati, Vincenzo

Publication type:

Article

Karyomapping in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 12, p. 2515, doi. 10.1007/s10815-019-01595-7

By:

Wang, Jing;
Lu, Bao-Min;
Li, Rong;
Guo, Jing;
Xu, Yan;
Pan, Jia-Fu;
Zeng, Yan-hong;
Zhou, Can-Quan;
Xu, Yan-Wen

Publication type:

Article

High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations.

Published in:

Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 4, p. 525, doi. 10.1007/s10815-013-9959-3

By:

Chelli, Mohamed;
Ferfouri, Fatma;
Boitrelle, Florence;
Albert, Martine;
Molina-Gomes, Denise;
Selva, Jacqueline;
Vialard, François

Publication type:

Article

Polar body morphology is not predictive of its cell division origin.

Published in:

Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 2, p. 137, doi. 10.1007/s10815-011-9683-9

By:

Treff, Nathan;
Scott, Richard;
Su, Jing;
Campos, Jessyca;
Stevens, John;
Schoolcraft, William;
Katz-Jaffe, Mandy

Publication type:

Article

An evaluation of the performance of the PAP-PCR method in detecting UGT1A1 gene polymorphisms.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10391-9

By:

Kong, Xiangsha;
Feng, Bo;
Huang, Zixiang;
Rao, Huiying;
Chen, Hongsong;
Liu, Feng;
Liu, Xiaofang;
Shi, Yijun;
Wu, Nan

Publication type:

Article

Development and characterization of 40 InDel markers from the major histocompatibility complex genes of largemouth bass (Micropterus salmoides).

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09429-1

By:

Zhang, Meng;
Wang, Zerui;
Cui, Jiao;
Ma, Xiao;
Qiao, Zhigang;
Kong, Xianghui;
Xu, Ruwei;
Li, Shengjie;
Du, Jinxing;
Zhao, Chunlong

Publication type:

Article

Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09317-8

By:

Schwarz, Martin;
Gazdarica, Matej;
Froňková, Eva;
Svatoň, Michael;
Bronský, Jiří;
Havlovicová, Markéta;
Křepelová, Anna;
Macek jr, Milan

Publication type:

Article

Evaluating physiological and genetic variation of Quercus brantii response to Brenneria goodwinii in Iran.

Published in:

European Journal of Plant Pathology, 2024, v. 168, n. 3, p. 607, doi. 10.1007/s10658-023-02788-8

By:

Zolfaghari, Roghayeh;
Karimi, Fatemeh;
Fayyaz, Payam;
Martín, Juan A.

Publication type:

Article

Impact of the number of Robertsonian chromosomes on germ cell death in wild male house mice.

Published in:

Chromosome Research, 2015, v. 23, n. 2, p. 159, doi. 10.1007/s10577-014-9442-8

By:

Medarde, Nuria;
Merico, Valeria;
López-Fuster, Mª;
Zuccotti, Maurizio;
Garagna, Silvia;
Ventura, Jacint

Publication type:

Article

Recombination and synaptic adjustment in oocytes of mice heterozygous for a large paracentric inversion.

Published in:

Chromosome Research, 2013, v. 21, n. 1, p. 37, doi. 10.1007/s10577-012-9336-6

By:

Torgasheva, Anna;
Rubtsov, Nikolai;
Borodin, Pavel

Publication type:

Article

Infrequent alteration of the DPC4 tumor suppressor gene in renal cell carcinoma.

Published in:

Urological Research, 2004, v. 32, n. 3, p. 229, doi. 10.1007/s00240-004-0410-1

By:

Popović Hadžija, Marijana;
Hrašćan, Reno;
Bosnar, Maja Herak;
Zeljko, Žarko;
Hadžija, Mirko;
Čadež, Josip;
Pavelic´, Krešimir;
Kapitanović, Sanja

Publication type:

Article

Effective population size of a population with stochastically varying size.

Published in:

Journal of Mathematical Biology, 2010, v. 61, n. 3, p. 359, doi. 10.1007/s00285-009-0304-5

By:

Iizuka, Masaru

Publication type:

Article

Verification of a loss of heterozygosity at the D8S1179 locus in a paternity case by the MiSeq FGx system.

Published in:

International Journal of Legal Medicine, 2023, v. 137, n. 5, p. 1407, doi. 10.1007/s00414-023-03043-9

By:

Wang, Yequan;
Hou, Xiudi;
Liu, Qi;
Wang, Dan;
Li, Shuyue;
Dang, Zhen

Publication type:

Article

Forensic characterization of 124 SNPs in the central Indian population using precision ID Identity Panel through next-generation sequencing.

Published in:

International Journal of Legal Medicine, 2022, v. 136, n. 2, p. 465, doi. 10.1007/s00414-021-02742-5

By:

Dash, Hirak Ranjan;
Avila, Eduardo;
Jena, Soumya Ranjan;
Kaitholia, Kamlesh;
Agarwal, Radhika;
Alho, Clarice Sampaio;
Srivastava, Ankit;
Singh, Anil Kumar

Publication type:

Article

Key genetic and forensic attributes of Uttarakhand population of India.

Published in:

International Journal of Legal Medicine, 2021, v. 135, n. 6, p. 2311, doi. 10.1007/s00414-021-02637-5

By:

Singh, Abhishek;
Sahajpal, Vivek;
Kumar, Satish;
Shukla, Malay;
Bhandari, Deepika;
Sharma, Shivkant;
Sharma, Lalit Kumar;
Thakur, Mukesh

Publication type:

Article

Population genetic data for 21 autosomal STR loci in the Azerbaijani population using the Globalfiler™ kit.

Published in:

International Journal of Legal Medicine, 2021, v. 135, n. 5, p. 1789, doi. 10.1007/s00414-021-02610-2

By:

Aliyeva, Asmer;
Gellatly, Victoria;
Abbasov, Mehraj;
Iyengar, Arati

Publication type:

Article

Genetic variation of 20 autosomal STRs in Jats belonging to Delhi, India.

Published in:

International Journal of Legal Medicine, 2021, v. 135, n. 3, p. 771, doi. 10.1007/s00414-020-02423-9

By:

Lalita;
Kushwaha, K. P. S.;
Chauhan, Tanya;
Kumawat, R. K.;
Dixit, Shivani;
Shrivastava, Pankaj

Publication type:

Article

A new strategy to confirm the identity of tumour tissues using single-nucleotide polymorphisms and next-generation sequencing.

Published in:

International Journal of Legal Medicine, 2020, v. 134, n. 2, p. 399, doi. 10.1007/s00414-019-02216-9

By:

Sun, Lijuan;
Liu, Qi;
Li, Shujin;
Ma, Guanju;
Wang, Zhandong;
Ma, Chunling;
Cong, Bin;
Fu, Lihong

Publication type:

Article

Population genetic data of 30 insertion–deletion markers in Punjabi population of Pakistan.

Published in:

International Journal of Legal Medicine, 2020, v. 134, n. 2, p. 511, doi. 10.1007/s00414-019-02029-w

By:

Shahzad, Muhammad;
Hussain, Manzoor;
Shafique, Muhammad;
Perveen, Rukhsana;
Sheikh, Nadeem

Publication type:

Article

Population genetic analysis of 30 insertion–deletion (INDEL) loci in a Qinghai Tibetan group using the Investigator DIPplex Kit.

Published in:

International Journal of Legal Medicine, 2019, v. 133, n. 4, p. 1039, doi. 10.1007/s00414-018-1954-x

By:

Jian, Hui;
Liang, Weibo;
Wang, Li;
Wang, Hui;
Bai, Xiaogang;
Lv, Meili

Publication type:

Article

Identifying novel microhaplotypes for ancestry inference.

Published in:

International Journal of Legal Medicine, 2019, v. 133, n. 4, p. 983, doi. 10.1007/s00414-018-1881-x

By:

Chen, Peng;
Yu, Youjia;
Huang, Shuainan;
Li, Zheng;
Chen, Feng;
Zhu, Wenjia;
Tong, Fang;
Pu, Yan;
Zhang, Lin;
Liang, Weibo

Publication type:

Article

Allele frequencies of 18 autosomal STR loci in the Uyghur population living in Kashgar Prefecture, Northwest China.

Published in:

International Journal of Legal Medicine, 2019, v. 133, n. 2, p. 427, doi. 10.1007/s00414-018-1821-9

By:

Zhang, Jian;
Mo, Xiaoting;
Ma, Wenhua;
Ye, Jian;
Li, Zhenghui;
Zhang, Hantao;
Lin, Ziqing

Publication type:

Article

Population genetic data of Investigator HDplex markers in Han population from Southern China.

Published in:

International Journal of Legal Medicine, 2019, v. 133, n. 1, p. 77, doi. 10.1007/s00414-018-1796-6

By:

Liu, Qiuling;
Nan, Hailun;
He, Xin;
Wu, Weiwei;
Lu, Dejian

Publication type:

Article

Population genetic analysis of a 21-plex DIP panel in seven Chinese ethnic populations.

Published in:

International Journal of Legal Medicine, 2018, v. 132, n. 1, p. 145, doi. 10.1007/s00414-017-1639-x

By:

Jiang, Youjing;
He, Wang;
Wang, Hui;
Chen, Dan;
Bai, Xiaogang;
Li, Jienan;
Liang, Weibo;
Zhang, Lin

Publication type:

Article

Genetic polymorphisms of 18 short tandem repeat loci in 3550 individuals from the Han population of Changchun, Northeast China.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 6, p. 1481, doi. 10.1007/s00414-016-1339-y

By:

Feng, Zhen;
Bao, Helai;
Wang, Linlin;
Xia, Mingying;
Jin, Li;
Li, Liming;
Li, Shilin

Publication type:

Article

Genotyping of 75 SNPs using arrays for individual identification in five population groups.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 1, p. 81, doi. 10.1007/s00414-015-1250-y

By:

Hwa, Hsiao-Lin;
Wu, Lawrence;
Lin, Chun-Yen;
Huang, Tsun-Ying;
Yin, Hsiang-I;
Tseng, Li-Hui;
Lee, James

Publication type:

Article

Population genetic analyses of the AmpFlSTR NGM™ in Brazil.

Published in:

International Journal of Legal Medicine, 2012, v. 126, n. 2, p. 337, doi. 10.1007/s00414-011-0606-1

By:

Raimann, Paulo;
Hirschfeld-Campolongo, Gabriela;
Schumacher, Simone;
Mattos Almeida, Sabrina;
Silva, Cláudia;
Rodenbusch, Rodrigo;
Bassini, Alessandra;
Souza, Leandro;
Nascimento, Eugênio;
Oliveira, Eleusa;
Santos, Valéria;
Oliveira, Elza;
Auler-Bittencourt, Eloísa;
Rocha Hirschfeld-Campolongo, Roberta;
Sousa, Maria;
Figueiredo, Helder;
Figueiredo, Bruno;
Silva, Rosane;
Moura-Neto, Rodrigo

Publication type:

Article

Mutation analysis of 24 short tandem repeats in Chinese Han population.

Published in:

International Journal of Legal Medicine, 2012, v. 126, n. 2, p. 331, doi. 10.1007/s00414-011-0630-1

By:

Lu, Dejian;
Liu, Qiuling;
Wu, Weiwei;
Zhao, Hu

Publication type:

Article

Novel microsatellite markers suitable for genetic studies in the white button mushroom Agaricus bisporus.

Published in:

Applied Microbiology & Biotechnology, 2009, v. 84, n. 6, p. 1125, doi. 10.1007/s00253-009-2030-8

By:

Foulongne-Oriol, Marie;
Spataro, Cathy;
Savoie, Jean-Michel

Publication type:

Article

Efficient generation of recessive traits in diploid sake yeast by targeted gene disruption and loss of heterozygosity.

Published in:

Applied Microbiology & Biotechnology, 2009, v. 82, n. 2, p. 387, doi. 10.1007/s00253-008-1833-3

By:

Kotaka, Atsushi;
Sahara, Hiroshi;
Kondo, Akihiko;
Ueda, Mitsuyoshi;
Hata, Yoji

Publication type:

Article

Evaluation of genetic variability in Symplocos laurina Wall. from two biodiversity hotspots of India.

Published in:

Plant Systematics & Evolution, 2014, v. 300, n. 10, p. 2239, doi. 10.1007/s00606-014-1046-4

By:

Bhagwat, Rasika;
Banu, Sofia;
Dholakia, Bhushan;
Kadoo, Narendra;
Lagu, Meena;
Gupta, Vidya

Publication type:

Article

Genetic diversity and relationships of wild and cultivated olives in Turkey.

Published in:

Plant Systematics & Evolution, 2014, v. 300, n. 5, p. 1247, doi. 10.1007/s00606-014-1002-3

By:

Yoruk, Berna;
Taskin, Vatan

Publication type:

Article

Genetic structure at patch level of the terrestrial orchid Cyclopogon luteoalbus (Orchidaceae) in a fragmented cloud forest.

Published in:

Plant Systematics & Evolution, 2011, v. 297, n. 3/4, p. 237, doi. 10.1007/s00606-011-0511-6

By:

Juárez, Lilian;
Montaña, Carlos;
Ferrer, Miriam

Publication type:

Article

Genetic diversity and structure in a natural Hordeum chilense population based on gliadin analysis.

Published in:

Plant Systematics & Evolution, 2006, v. 261, n. 1-4, p. 11, doi. 10.1007/s00606-006-0436-7

By:

Alvarez, J.;
Martín, L.

Publication type:

Article

Different cytoplasmic/nuclear distribution of S6 protein phosphorylated at S240/244 and S235/236.

Published in:

Amino Acids, 2011, v. 40, n. 2, p. 595, doi. 10.1007/s00726-010-0684-2

By:

Rosner, M.;
Fuchs, C.;
Dolznig, H.;
Hengstschläger, M.

Publication type:

Article

Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease.

Published in:

Medical Principles & Practice, 2015, v. 24, n. 4, p. 351, doi. 10.1159/000430842

By:

Mehrjoo, Zohreh;
Najmabadi, amin;
abedini, Seyedeh Sedigheh;
Mohseni, Marzieh;
Kamali, Koorosh;
Najmabadi, Hossein;
Khorram Khorshid, Hamid Reza

Publication type:

Article

Genetic diversity, population structure and subdivision of local Balkan pig breeds in Austria, Croatia, Serbia and Bosnia-Herzegovina and its practical value in conservation programs.

Published in:

Genetics Selection Evolution, 2012, v. 44, n. 5, p. 2, doi. 10.1186/1297-9686-44-5

By:

Druml, Thomas;
Salajpal, Kresimir;
Dikic, Maria;
Urosevic, Miroslav;
Grilz-Seger, Gertrud;
Baumung, Roswitha

Publication type:

Article

Estimating genetic diversity across the neutral genome with the use of dense marker maps.

Published in:

Genetics Selection Evolution, 2010, v. 42, n. 5, p. 1, doi. 10.1186/1297-9686-42-12

By:

Engelsma, Krista A.;
Calus, Mario P. L.;
Bijma, Piter;
Windig, Jack J.

Publication type:

Article

CGmapTools improves the precision of heterozygous SNV calls and supports allelespecific methylation detection and visualization in bisulfite-sequencing data.

Published in:

Bioinformatics, 2018, v. 34, n. 3, p. 381, doi. 10.1093/bioinformatics/btx595

By:

Guo, Weilong;
Zhu, Ping;
Pellegrini, Matteo;
Zhang, Michael Q;
Wang, Xiangfeng;
Ni, Zhongfu

Publication type:

Article

TITINdb--a computational tool to assess titin's role as a disease gene.

Published in:

Bioinformatics, 2017, v. 33, n. 21, p. 3482, doi. 10.1093/bioinformatics/btx424

By:

Laddach, Anna;
Gautel, Mathias;
Fraternali, Franca

Publication type:

Article

HaploMerger2: rebuilding both haploid sub-assemblies from high-heterozygosity diploid genome assembly.

Published in:

Bioinformatics, 2017, v. 33, n. 16, p. 2577, doi. 10.1093/bioinformatics/btx220

By:

Shengfeng Huang;
Mingjing Kang;
Anlong Xu

Publication type:

Article

GenomeScope: fast reference-free genome profiling from short reads.

Published in:

Bioinformatics, 2017, v. 33, n. 14, p. 2202, doi. 10.1093/bioinformatics/btx153

By:

Vurture, Gregory W.;
Sedlazeck, Fritz J.;
Nattestad, Maria;
Underwood, Charles J.;
Han Fang;
Gurtowski, James;
Schatz, Michael C.

Publication type:

Article

HYSYS: have you swapped your samples?

Published in:

Bioinformatics, 2017, v. 33, n. 4, p. 596, doi. 10.1093/bioinformatics/btw685

By:

Schröder, Jan;
Corbin, Vincent;
Papenfuss, Anthony T.

Publication type:

Article

RVD2: an ultra-sensitive variant detection model for low-depth heterogeneous next-generation sequencing data.

Published in:

Bioinformatics, 2015, v. 31, n. 17, p. 2785, doi. 10.1093/bioinformatics/btv275

By:

Yuting He;
Fan Zhang;
Flaherty, Patrick

Publication type:

Article

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data.

Published in:

Bioinformatics, 2015, v. 31, n. 3, p. 429, doi. 10.1093/bioinformatics/btu665

By:

Nadaf, Javad;
Majewski, Jacek;
Fahiminiya, Somayyeh

Publication type:

Article

CLImAT: accurate detection of copy number alteration and loss of heterozygosity in impure and aneuploid tumor samples using whole-genome sequencing data.

Published in:

Bioinformatics, 2014, v. 30, n. 18, p. 2576, doi. 10.1093/bioinformatics/btu346

By:

Yu, Zhenhua;
Liu, Yuanning;
Shen, Yi;
Wang, Minghui;
Li, Ao

Publication type:

Article

Deconvolving tumor purity and ploidy by integrating copy number alterations and loss of heterozygosity.

Published in:

Bioinformatics, 2014, v. 30, n. 15, p. 2121, doi. 10.1093/bioinformatics/btu174

By:

Li, Yi;
Xie, Xiaohui

Publication type:

Article

Exploring genome characteristics and sequence quality without a reference.

Published in:

Bioinformatics, 2014, v. 30, n. 9, p. 1228, doi. 10.1093/bioinformatics/btu023

By:

Simpson, Jared T.

Publication type:

Article

Rainbow: an integrated tool for efficient clustering and assembling RAD-seq reads.

Published in:

Bioinformatics, 2012, v. 28, n. 21, p. 2732, doi. 10.1093/bioinformatics/bts482

By:

Chong, Zechen;
Ruan, Jue;
Wu, Chung-I.

Publication type:

Article