On the Erratic Use of Variants in Papers on Linguistics

by Artur Rafaelovič Bagdasarov
Published 2008-01-01

Identification of missing variants by combining multiple analytic pipelines

by Yingxue Ren, Joseph S. Reddy, Cyril Pottier, Vivekananda Sarangi, Shulan Tian, Jason P. Sinnwell, Shannon K. McDonnell, Joanna M. Biernacka, Minerva M. Carrasquillo, Owen A. Ross, Nilüfer Ertekin-Taner, Rosa Rademakers, Matthew Hudson, Liudmila Sergeevna Mainzer, Yan W. Asmann
Published 2018-04-01

Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

by Jeffrey N. Dudley, Celine S. Hong, Marwan A. Hawari, Jasmine Shwetar, Julie C. Sapp, Justin Lack, Henoke Shiferaw, NISC Comparative Sequencing Program, Jennifer J. Johnston, Leslie G. Biesecker
Published 2021-04-01

Comparative assessments of indel annotations in healthy and cancer genomes with next-generation sequencing data

by Jing Chen, Jun-tao Guo
Published 2020-11-01

SomatoSim: precision simulation of somatic single nucleotide variants

by Marwan A. Hawari, Celine S. Hong, Leslie G. Biesecker
Published 2021-03-01

KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses

by Yuyi Ying, Lu Lu, Santasree Banerjee, Lizhen Xu, Qiang Zhao, Hao Wu, Ruiqi Li, Xiao Xu, Hua Yu, Dante Neculai, Yongmei Xi, Fan Yang, Jiale Qin, Chen Li
Published 2020-12-01

The Identification and Characterization of Copy Number Variants in the Bovine Genome

by Doan, Ryan
Published 2013

Rare and common genetic variant associations with quantitative human phenotypes

by Zhao, Jing
Published 2015

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

by Vasily E. Ramensky, Vasily E. Ramensky, Alexandra I. Ershova, Marija Zaicenoka, Anna V. Kiseleva, Anastasia A. Zharikova, Anastasia A. Zharikova, Yuri V. Vyatkin, Yuri V. Vyatkin, Evgeniia A. Sotnikova, Irina A. Efimova, Mikhail G. Divashuk, Mikhail G. Divashuk, Olga V. Kurilova, Olga P. Skirko, Galina A. Muromtseva, Olga A. Belova, Svetlana A. Rachkova, Maria S. Pokrovskaya, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina
Published 2021-10-01

Systemic vascular variants

by Marco, Elizabeth Katherine
Published 2019

Molecular Profiling of FIX (FACTOR 9) Gene of Hemophilia B in Karnataka

by Sujayendra Kulkarni, Rajat Hegde, Smita Hegde, Suyamindra Kulkarni, Sanjeev Kolagi, Pramod Gai, Rudragouda Bulagouda
Published 2020-01-01

Iatrogenic injury of an aberrant right posterior sectoral bile duct

by John Cantrell
Published 2011-08-01

Paranasal sinus variants

by Zaeem Ismail Ebrahim, Zarina Ismail Lockhat
Published 2012-02-01

Ultrasonography of Uterine Leiomyomas

by Sabrina Q. Rashid, Yi-Hong Chou, Chui-Mei Tiu
Published 2016-03-01

Analyse d’association de variants génétiques rares dans une population démographiquement stable

by Persyn, Elodie
Published 2017

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

by Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi
Published 2021-07-01

Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium

by Bridget M Lin, Kelsey E Grinde, Jennifer A Brody, Charles E Breeze, Laura M Raffield, Josyf C Mychaleckyj, Timothy A Thornton, James A Perry, Leslie J Baier, Lisa de las Fuentes, Xiuqing Guo, Benjamin D Heavner, Robert L Hanson, Yi-Jen Hung, Huijun Qian, Chao A Hsiung, Shih-Jen Hwang, Margaret R Irvin, Deepti Jain, Tanika N Kelly, Sayuko Kobes, Leslie Lange, James P Lash, Yun Li, Xiaoming Liu, Xuenan Mi, Solomon K Musani, George J Papanicolaou, Afshin Parsa, Alex P Reiner, Shabnam Salimi, Wayne H-H Sheu, Alan R Shuldiner, Kent D Taylor, Albert V Smith, Jennifer A Smith, Adrienne Tin, Dhananjay Vaidya, Robert B Wallace, Kenichi Yamamoto, Saori Sakaue, Koichi Matsuda, Yoichiro Kamatani, Yukihide Momozawa, Lisa R Yanek, Betsi A Young, Wei Zhao, Yukinori Okada, Gonzalo Abecasis, Bruce M Psaty, Donna K Arnett, Eric Boerwinkle, Jianwen Cai, Ida Yii-Der Chen, Adolfo Correa, L Adrienne Cupples, Jiang He, Sharon LR Kardia, Charles Kooperberg, Rasika A Mathias, Braxton D Mitchell, Deborah A Nickerson, Steve T Turner, Vasan S Ramachandran, Jerome I Rotter, Daniel Levy, Holly J Kramer, Anna Köttgen, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Kidney Working Group, Stephen S Rich, Dan-Yu Lin, Sharon R Browning, Nora Franceschini
Published 2021-01-01

Pathogenic <i>APC</i> Variants in Latvian Familial Adenomatous Polyposis Patients

by Zanda Daneberga, Dace Berzina, Viktors Borosenko, Zita Krumina, Linda Kokaine-Sapovalova, Andris Gardovskis, Egija Berga-Svitina, Janis Gardovskis, Edvins Miklasevics
Published 2019-09-01

Late onset variants in Fabry disease: Results in high risk population screenings in Argentina

by G. Serebrinsky, M. Calvo, S. Fernandez, S. Saito, K. Ohno, E. Wallace, D. Warnock, H. Sakuraba, J. Politei
Published 2015-09-01

Genotyping Fanconi anemia patients from Serbia reveals three novel FANCD2 variants

by Filipović-Tričković Jelena, Mandušić Vesna, Joksić Ivana, Vujić Dragana, Valenta-Šobot Ana, Joksić Gordana
Published 2017-01-01