Reference-Free Comparative Genomics of 174 Chloroplasts

por Kua, Chai-Shian, Ruan, Jue, Harting, John, Ye, Cheng-Xi, Helmus, Matthew R., Yu, Jun, Cannon, Charles H.
Publicado 2012

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

por Chen, Xiao, Harting, John, Farrow, Emily, Thiffault, Isabelle, Kasperaviciute, Dalia, Hoischen, Alexander, Gilissen, Christian, Pastinen, Tomi, Eberle, Michael A.
Publicado 2023

An efficient genotyper and star-allele caller for pharmacogenomics

por Hari, Ananth, Zhou, Qinghui, Gonzaludo, Nina, Harting, John, Scott, Stuart A., Qin, Xiang, Scherer, Steve, Sahinalp, S. Cenk, Numanagić, Ibrahim
Publicado 2023

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

por Mangin, Antoine, de Pontual, Laure, Tsai, Yu-Chih, Monteil, Laetitia, Nizon, Mathilde, Boisseau, Pierre, Mercier, Sandra, Ziegle, Janet, Harting, John, Heiner, Cheryl, Gourdon, Geneviève, Tomé, Stéphanie
Publicado 2021

Reference Grade Characterization of Polymorphisms in Full-Length HLA Class I and II Genes With Short-Read Sequencing on the ION PGM System and Long-Reads Generated by Single Molecu...

por Suzuki, Shingo, Ranade, Swati, Osaki, Ken, Ito, Sayaka, Shigenari, Atsuko, Ohnuki, Yuko, Oka, Akira, Masuya, Anri, Harting, John, Baybayan, Primo, Kitazume, Miwako, Sunaga, Junichi, Morishima, Satoko, Morishima, Yasuo, Inoko, Hidetoshi, Kulski, Jerzy K., Shiina, Takashi
Publicado 2018

Burkholderia pseudomallei sequencing identifies genomic clades with distinct recombination, accessory, and epigenetic profiles

por Nandi, Tannistha, Holden, Matthew T.G., Didelot, Xavier, Mehershahi, Kurosh, Boddey, Justin A., Beacham, Ifor, Peak, Ian, Harting, John, Baybayan, Primo, Guo, Yan, Wang, Susana, How, Lee Chee, Sim, Bernice, Essex-Lopresti, Angela, Sarkar-Tyson, Mitali, Nelson, Michelle, Smither, Sophie, Ong, Catherine, Aw, Lay Tin, Hoon, Chua Hui, Michell, Stephen, Studholme, David J., Titball, Richard, Chen, Swaine L., Parkhill, Julian, Tan, Patrick
Publicado 2015

Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases

por DeJesus-Hernandez, Mariely, Aleff, Ross A, Jackson, Jazmyne L, Finch, NiCole A, Baker, Matthew C, Gendron, Tania F, Murray, Melissa E, McLaughlin, Ian J, Harting, John R, Graff-Radford, Neill R, Oskarsson, Björn, Knopman, David S, Josephs, Keith A, Boeve, Bradley F, Petersen, Ronald C, Fryer, John D, Petrucelli, Leonard, Dickson, Dennis W, Rademakers, Rosa, Ebbert, Mark T W, Wieben, Eric D, van Blitterswijk, Marka
Publicado 2021