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

Leveraging Human Pangenome for Improved Somatic Variant Detection

利用人类泛基因组改进体细胞变异检测

Fu, Qichen; Xin, Zilan; Miao, Benpeng; Zhang, Wenjin; Kong, Nahyun; Tang, Zitian; Ruttenberg, Andrew; Albracht, Derek; Belter, Edward A; Garza, John E; Tomlinson, Chad; Mehinovic, Elvisa; Shen, Jiawei; Zhuo, Xiaoyu; Dong, Shihua; Johnson, Benjamin K; Majewski, Mary F; Palmer, Theron; Jang, H Josh; Cheng, Yuchen; Li, Zefan; Lawson, Heather A; Lindsay, Tina; Li, Daofeng; Fulton, Robert; Shen, Hui; Jin, Sheng Chih; Macias-Velasco, Juan F; Wang, Ting

The Somatic Mosaicism across Human Tissues Network

人体组织中的体细胞镶嵌网络

Coorens, Tim H H; Oh, Ji Won; Choi, Yujin Angelina; Lim, Nam Seop; Zhao, Boxun; Voshall, Adam; Abyzov, Alexej; Antonacci-Fulton, Lucinda; Aparicio, Samuel; Ardlie, Kristin G; Bell, Thomas J; Bennett, James T; Bernstein, Bradley E; Blanchard, Thomas G; Boyle, Alan P; Buenrostro, Jason D; Burns, Kathleen H; Chen, Fei; Chen, Rui; Choudhury, Sangita; Doddapaneni, Harsha V; Eichler, Evan E; Evrony, Gilad D; Faith, Melissa A; Fazzio, Thomas G; Fulton, Robert S; Garber, Manuel; Gehlenborg, Nils; Germer, Soren; Getz, Gad; Gibbs, Richard A; Hernandez, Raquel G; Jin, Fulai; Korbel, Jan O; Landau, Dan A; Lawson, Heather A; Lennon, Niall J; Li, Heng; Li, Yan; Loh, Po-Ru; Marth, Gabor; McConnell, Michael J; Mills, Ryan E; Montgomery, Stephen B; Natarajan, Pradeep; Park, Peter J; Satija, Rahul; Sedlazeck, Fritz J; Shao, Diane D; Shen, Hui; Stergachis, Andrew B; Underhill, Hunter R; Urban, Alexander E; VonDran, Melissa W; Walsh, Christopher A; Wang, Ting; Wu, Tao P; Zong, Chenghang; Lee, Eunjung Alice; Vaccarino, Flora M

Monitoring clonal burden as an alternative to blast count for myelodysplastic neoplasm treatment response

监测克隆负荷可作为骨髓增生异常肿瘤治疗反应的替代指标,以替代原始细胞计数。

Jacoby, Meagan A; Duncavage, Eric D; Khanna, Ajay; Chang, Gue Su; Nonavinkere Srivatsan, Sridhar; Miller, Christopher A; Gao, Feng; Robinson, Josh; Shao, Jin; Fulton, Robert S; Fronick, Catrina C; O'Laughlin, Michelle; Heath, Sharon E; Brendel, Kimberly; Chavez, Monique; DiPersio, John F; Abboud, Camille N; Stockerl-Goldstein, Keith; Westervelt, Peter; Cashen, Amanda; Pusic, Iskra; Oh, Stephen T; Welch, John S; Wells, Denise A; Loken, Michael R; Uy, Geoffrey L; Walter, Matthew J

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面的信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Starosta, Rodrigo T; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine A; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer E; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik G; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

与 SLC17A5 组织特异性嵌合相关的非典型游离唾液酸贮积症

Shinawi Marwan, Wegner Daniel J, Paul Alexander J, Buchser William, Schmidt Robert, Sharma Jaiprakash, Sardiello Marco, Sisco Kathleen, Manwaring Linda, Reynolds Margaret, Fulton Robert, Fronick Catrina, Shaver Andrew, Huang Tina Y, Carroll Ashley, Roessler Kyria, Halpern Aaron L, Dickson Patricia I, Wambach Jennifer A

Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers

长读长基因组测序在髓系肿瘤基因组分析中的应用评价

Abel, Haley J; Mahgoub, Mohamed; Davarapalli, Nidhi; Kodgule, Rohan; Miller, Christopher A; Fulton, Robert S; Fronick, Catrina; Markovic, Christopher; Heath, Sharon; Payton, Jacqueline E; Jacoby, Meagan A; Link, Daniel C; Walter, Matthew J; Duncavage, Eric J; Ley, Timothy J; Spencer, David H

A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap Mixtures

一种用于在HapMap混合物中建立体细胞变异检测资源的泛基因组方法

Kong, Nahyun; Tang, Zitian; Ruttenberg, Andrew; Macias-Velasco, Juan F; Li, Zefan; Zhang, Wenjin; Miao, Benpeng; Xin, Zilan; Fu, Qichen; Park, Haeorum; Zhuo, Xiaoyu; Mehinovic, Elvisa; Belter, Edward; Tomlinson, Chad; Garza, John E; Dong, Shihua; Casey, Emma; Johnson, Ben; Majewski, Mary F; Palmer, Theron; Cheng, Yuchen; Lindsay, Tina; Schedl, Tim; Li, Daofeng; Shen, Hui; Fulton, Robert; Wang, Ting; Jin, Sheng Chih

A comprehensive view of somatic mosaicism by single-cell DNA analysis

通过单细胞DNA分析全面了解体细胞嵌合现象

Luquette, Lovelace J; Coorens, Tim H H; Natu, Abhiram; Suvakov, Milovan; Caplin, Ann; Jun, Mee Sook; Mo, Alisa; Pelt, Joe; Anderson, Lisa; Berselli, Michele; Bhamidipati, Sravya; Blanchard, Thomas; Brew, Joseph; Chun, Hye-Jung E; Chun, Hyunbin; Dehankar, Mrunal K; Feng, William C; Furatero, Rob; Grochowski, Christopher M; Ho, Eric; Jang, Yeongjun; Kottapalli, Kavya; Leonard, M Kathryn; Lim, Nam Seop; Lindsay, Tina; Nicholson, Sarah; Raimondi, Ivan; Runnels, Alexi; Scharlee, Constantijn; Shin, JaeEun; Veit, Alexander D; VonDran, Melissa; Wang, Yifan; Yuan, Dennis J; Zhao, Yifan; Bell, Thomas J; Ardlie, Kristin; Doddapaneni, Harsha; Fulton, Robert; Germer, Soren; Landau, Dan; Oh, Ji Won; Park, Peter J; Vaccarino, Flora M; Walsh, Christopher; Abyzov, Alexej

Intermediately Methylated Regions in Normal Cells Are Epimutation Hotspots in Cancer

正常细胞中甲基化程度中等的区域是癌症中的表观突变热点。

Mahgoub, Mohamed; Abel, Haley; Davarapalli, Nidhi; Struthers, Heidi; Kotnik, Emilee; Johnson, Brittany; Markovic, Christopher; Fronick, Catrina; Fulton, Robert; Meers, Michael P; Spencer, David H