Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

by Mel·lina Pinsach-Abuin, Bernat del Olmo, Adrian Pérez-Agustin, Jesus Mates, Catarina Allegue, Anna Iglesias, Qi Ma, Daria Merkurjev, Sergiy Konovalov, Jing Zhang, Farah Sheikh, Amalio Telenti, Josep Brugada, Ramon Brugada, Melissa Gymrek, Julia di Iulio, Ivan Garcia-Bassets, Sara Pagans
Published 2021-04-01

Impact of cancer mutational signatures on transcription factor motifs in the human genome

by Calvin Wing Yiu Chan, Zuguang Gu, Matthias Bieg, Roland Eils, Carl Herrmann
Published 2019-05-01

VAReporter: variant reporter for cancer research of massive parallel sequencing

by Po-Jung Huang, Chi-Ching Lee, Ling-Ya Chiu, Kuo-Yang Huang, Yuan-Ming Yeh, Chia-Yu Yang, Cheng-Hsun Chiu, Petrus Tang
Published 2018-05-01

GeDi: applying suffix arrays to increase the repertoire of detectable SNVs in tumour genomes

by Izaak Coleman, Giacomo Corleone, James Arram, Ho-Cheung Ng, Luca Magnani, Wayne Luk
Published 2020-02-01

Validation of multiplex PCR sequencing assay of SIV

by Ryan V. Moriarty, Nicolas Fesser, Matthew S. Sutton, Vanessa Venturi, Miles P. Davenport, Timothy Schlub, Shelby L. O’Connor
Published 2021-01-01

Reproducibility of SNV-calling in multiple sequencing runs from single tumors

by Dakota Z. Derryberry, Matthew C. Cowperthwaite, Claus O. Wilke
Published 2016-01-01

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

by C. S. Paththinige, J. R. D. K. Rajapakse, G. R. Constantine, K. P. Sem, R. R. Singaraja, R. W. Jayasekara, V. H. W. Dissanayake
Published 2018-05-01

Placenta Transcriptome Profiling in Intrauterine Growth Restriction (IUGR)

by Marta Majewska, Aleksandra Lipka, Lukasz Paukszto, Jan Pawel Jastrzebski, Karol Szeszko, Marek Gowkielewicz, Ewa Lepiarczyk, Marcin Jozwik, Mariusz Krzysztof Majewski
Published 2019-03-01

Analysis of expression profile and gene variation via development of methods for Next Generation Sequencing data

by Wolff, Alexander
Published 2018

Single-Nucleotide Variants in the AIM2 – Absent in Melanoma 2 Gene (rs1103577) Associated With Protection for Tuberculosis

by Mariana Brasil de Andrade Figueira, Mariana Brasil de Andrade Figueira, Dhêmerson Souza de Lima, Antonio Luiz Boechat, Antonio Luiz Boechat, Milton Gomes do Nascimento Filho, Irineide Assumpção Antunes, Joycenéa da Silva Matsuda, Thaís Rodrigues de Albuquerque Ribeiro, Luana Sousa Felix, Ariane Senna Fonseca Gonçalves, Allyson Guimarães da Costa, Allyson Guimarães da Costa, Rajendranath Ramasawmy, Rajendranath Ramasawmy, Rajendranath Ramasawmy, Alessandra Pontillo, Mauricio Morishi Ogusku, Aya Sadahiro, Aya Sadahiro
Published 2021-04-01

SomatoSim: precision simulation of somatic single nucleotide variants

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

Analysis of genomic and transcriptomic variations as prognostic signature for lung adenocarcinoma

by Talip Zengin, Tuğba Önal-Süzek
Published 2020-09-01

Whole Genome Sequencing of Hepatitis A Virus Using a PCR-Free Single-Molecule Nanopore Sequencing Approach

by Frederico M. Batista, Tina Stapleton, James A. Lowther, Vera G. Fonseca, Rebecca Shaw, Christopher Pond, David I. Walker, Ronny van Aerle, Jaime Martinez-Urtaza, Jaime Martinez-Urtaza
Published 2020-05-01

Ubiquitin-Proteasome-Collagen (CUP) Pathway in Preterm Premature Rupture of Fetal Membranes

by Xinliang Zhao, Xinliang Zhao, Xinliang Zhao, Xiaoyan Dong, Xiucui Luo, Xiucui Luo, Jing Pan, Jing Pan, Weina Ju, Weina Ju, Meijiao Zhang, Peirong Wang, Peirong Wang, Peirong Wang, Mei Zhong, Mei Zhong, Yanhong Yu, Yanhong Yu, W. Ted Brown, W. Ted Brown, Nanbert Zhong, Nanbert Zhong, Nanbert Zhong, Nanbert Zhong, Nanbert Zhong, Nanbert Zhong, Nanbert Zhong
Published 2017-06-01

SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data

by N. M. Prashant, Nawaf Alomran, Yu Chen, Hongyu Liu, Pavlos Bousounis, Mercedeh Movassagh, Nathan Edwards, Anelia Horvath
Published 2021-09-01

The antimicrobial susceptibility, resistance mechanisms and phylogenetic structure of S. Typhi isolated in 2005-2018 in the Russian Federation

by S. A. Egorova, K. V. Kuleshov, L. A. Kaftyreva, Zoya N. Matveeva
Published 2020-04-01

<i>POLG</i> Gene Variants in Cervical Cancer Patients and Their Associations with Clinical and Pathomorphological Tumor Characteristics

by Ieva Golubickaite, Rasa Ugenskiene, Egle Ziliene, Jurgita Beniusyte, Arturas Inciura, Lina Poskiene, Elona Juozaityte
Published 2021-04-01

EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types

by Elisa Paolicchi, Lorenzo Fornaro, Stefano Landi, Sushilaben Rigas, Francesco Crea
Published 2017-11-01

dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

by Xiaoming Liu, Chang Li, Chengcheng Mou, Yibo Dong, Yicheng Tu
Published 2020-12-01

Similarities and differences between variants called with human reference genome HG19 or HG38

by Bohu Pan, Rebecca Kusko, Wenming Xiao, Yuanting Zheng, Zhichao Liu, Chunlin Xiao, Sugunadevi Sakkiah, Wenjing Guo, Ping Gong, Chaoyang Zhang, Weigong Ge, Leming Shi, Weida Tong, Huixiao Hong
Published 2019-03-01