日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing

Severus 利用长读长测序技术检测癌症基因组中的体细胞结构变异和复杂重排。

Keskus, Ayse G; Bryant, Asher; Ahmad, Tanveer; Yoo, Byunggil; Aganezov, Sergey; Goretsky, Anton; Donmez, Ataberk; Lansdon, Lisa A; Rodriguez, Isabel; Park, Jimin; Liu, Yuelin; Cui, Xiwen; Gardner, Joshua; McNulty, Brandy; Sacco, Samuel; Shetty, Jyoti; Zhao, Yongmei; Tran, Bao; Narzisi, Giuseppe; Helland, Adrienne; Cook, Daniel E; Chang, Pi-Chuan; Kolesnikov, Alexey; Carroll, Andrew; Molloy, Erin K; Bi, Chengpeng; Walter, Adam; Gibson, Margaret; Pushel, Irina; Guest, Erin; Pastinen, Tomi; Shafin, Kishwar; Miga, Karen H; Malikic, Salem; Day, Chi-Ping; Robine, Nicolas; Sahinalp, Cenk; Dean, Michael; Farooqi, Midhat S; Paten, Benedict; Kolmogorov, Mikhail

Evolving epigenomics of immune cells at single-nucleus resolution in children en route to type 1 diabetes

儿童发展为 1 型糖尿病过程中免疫细胞单核分辨率的表观基因组演变

Pastinen, Tomi; Grundberg, Elin; Bradley, Todd; Honkanen, Jarno; Cheung, Warren A; Vuorela, Arja; Johnston, Jeffrey J; Yoo, Byunggil; Khanal, Santosh; McLennan, Rebecca; Ilonen, Jorma; Vaarala, Outi; Krischer, Jeffrey P; Knip, Mikael

Erratum: Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA

勘误:通过个人DNA长读长分析扩展甲基化组和数量性状位点检测

Groza, Cristian; Ge, Bing; Cheung, Warren A; Pastinen, Tomi; Bourque, Guillaume

Rapid and scalable personalized ASO screening in patient-derived organoids

在患者来源的类器官中进行快速且可扩展的个性化 ASO 筛选

John C Means, Anabel L Martinez-Bengochea, Daniel A Louiselle, Jacqelyn M Nemechek, John M Perry, Emily G Farrow, Tomi Pastinen, Scott T Younger

Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis

用于遗传疾病诊断的临床长读长测序检测

Thiffault, Isabelle; Farrow, Emily; Barrett, Cassandra; Scott, Meadow; Ross, Amy; Means, John C; Cheung, Warren A; Johnson, Adam F; Koseva, Boryana; McLennan, Rebecca; Grundberg, Elin; Bi, Chengpeng; Schwendinger-Schreck, Carl; Yoo, Byunggil; Johnston, Jeffrey J; Del Viso, Florencia; Paolillo, Vitoria; Herriges, John; Zhang, Lei; Gibson, Margaret; Cohen, Ana S A; Alaimo, Joe; Saunders, Carol J; Pastinen, Tomi

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

利用HiFi测序技术对高度相似的旁系同源基因进行全基因组分析

Chen, Xiao; Baker, Daniel; Dolzhenko, Egor; Devaney, Joseph M; Noya, Jessica; Berlyoung, April S; Brandon, Rhonda; Hruska, Kathleen S; Lochovsky, Lucas; Kruszka, Paul; Newman, Scott; Farrow, Emily; Thiffault, Isabelle; Pastinen, Tomi; Kasperaviciute, Dalia; Gilissen, Christian; Vissers, Lisenka; Hoischen, Alexander; Berger, Seth; Vilain, Eric; Délot, Emmanuèle; Eberle, Michael A

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

内含子FGF14 GAA重复序列扩增影响多系统萎缩的进展和生存

Chelban, Viorica; Pellerin, David; Vijiaratnam, Nirosen; Lee, Hamin; Goh, Yen Yee; Brown, Lauren; Sambin, Sara; Seilhean, Danielle; Lehericy, Stephane; Iruzubieta, Pablo; Mohammad, Rahema; Self, Eleanor; Scardamaglia, Annarita; Lee, Cameron; Ostrozovicova, Miriama; Dicaire, Marie-Josée; Girges, Christine; Gustavsson, Emil K; Murphy, David; Curless, Toby; Laß, Joshua; Trinh, Joanne; Rittman, Timothy; Rowe, James B; Hadjivassiliou, Marios; Archibald, Neil; Danzi, Matt C; Ashton, Catherine; Roth, Virginie; Wandzel, Marion; Cheung, Warren A; Gveric, Djordje O; De Vil, Bart; Follett, Jordan; Leigh, P Nigel; Beichert, Lukas; Pastinen, Tomi; Bonnet, Céline; Renaud, Mathilde; Meissner, Wassilios G; Sieben, Anne; Crosiers, David; Cras, Patrick; Zuchner, Stephan; Corvol, Jean-Christophe; Farrer, Matthew J; Synofzik, Matthis; Brais, Bernard; Warner, Tom; Morris, Huw R; Jaunmuktane, Zane; Foltynie, Tom; Houlden, Henry

Structural variation, selection, and diversification of the NPIP gene family from the human pangenome

人类泛基因组中NPIP基因家族的结构变异、选择和多样化

Dishuck, Philip C; Munson, Katherine M; Lewis, Alexandra P; Dougherty, Max L; Underwood, Jason G; Harvey, William T; Hsieh, PingHsun; Pastinen, Tomi; Eichler, Evan E

Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA

利用长读长测序技术对个人DNA进行分析,以检测扩展的甲基化组和数量性状位点。

Groza, Cristian; Ge, Bing; Cheung, Warren A; Pastinen, Tomi; Bourque, Guillaume

Black community member perceptions and ethics recommendations on epigenomic research

黑人社区成员对表观基因组学研究的看法和伦理建议

Berrios, Courtney; Basey, Tammy; Bradley-Ewing, Andrea; Daniels-Young, Stacey; Lewis, Daysha; Feldman, Keith; Moffatt, Mary E; Pastinen, Tomi; Grundberg, Elin