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

A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes

对纳米孔长读长基因组串联重复序列基因分型方法的全面评估

Aliyev, Elbay; Avvaru, Akshay; De Coster, Wouter; Arner, Garrison M; Nyaga, Denis M; Gibson, Sophia B; Weisburd, Ben; Gu, Bida; Gonzaga-Jauregui, Claudia; Chaisson, Mark J P; Miller, Danny E; Ostrowski, Elizabeth; Dashnow, Harriet

A family portrait of the genomic factors shaping tandem repeat mutagenesis

串联重复突变发生的基因组因素家族图景

Sasani, Thomas A; Goldberg, Michael E; Avvaru, Akshay K; Nicholas, Thomas J; Neklason, Deborah W; Dolzhenko, Egor; Mokveld, Tom; Munson, Katherine M; Hoekzema, Kendra; Ayllon, Marcelo; Kaufman, Eli J; Porubsky, David; Valdmanis, Paul N; Eichler, Evan E; Quinlan, Aaron R; Dashnow, Harriet

Human de novo mutation rates from a four-generation pedigree reference

来自四代家系参考的人类新生突变率

David Porubsky ,Harriet Dashnow # ,Thomas A Sasani # ,Glennis A Logsdon # ,Pille Hallast # ,Michelle D Noyes # ,Zev N Kronenberg # ,Tom Mokveld # ,Nidhi Koundinya ,Cillian Nolan ,Cody J Steely ,Andrea Guarracino ,Egor Dolzhenko ,William T Harvey ,William J Rowell ,Kirill Grigorev ,Thomas J Nicholas ,Michael E Goldberg ,Keisuke K Oshima ,Jiadong Lin ,Peter Ebert ,W Scott Watkins ,Tiffany Y Leung ,Vincent C T Hanlon ,Sean McGee ,Brent S Pedersen ,Hannah C Happ ,Hyeonsoo Jeong ,Katherine M Munson ,Kendra Hoekzema ,Daniel D Chan ,Yanni Wang ,Jordan Knuth ,Gage H Garcia ,Cairbre Fanslow ,Christine Lambert ,Charles Lee ,Joshua D Smith ,Shawn Levy ,Christopher E Mason ,Erik Garrison ,Peter M Lansdorp ,Deborah W Neklason ,Lynn B Jorde ,Aaron R Quinlan ,Michael A Eberle ,Evan E Eichler

The Platinum Pedigree: a long-read benchmark for genetic variants

白金谱系:基因变异的长读长基准

Kronenberg, Zev; Nolan, Cillian; Porubsky, David; Mokveld, Tom; Rowell, William J; Lee, Sangjin; Dolzhenko, Egor; Chang, Pi-Chuan; Holt, James M; Saunders, Christopher T; Olson, Nathan D; Steely, Cody J; McGee, Sean; Guarracino, Andrea; Koundinya, Nidhi; Harvey, William T; Watkins, W Scott; Munson, Katherine M; Hoekzema, Kendra; Chua, Khi Pin; Chen, Xiao; Fanslow, Cairbre; Lambert, Christine; Dashnow, Harriet; Garrison, Erik; Smith, Joshua D; Lansdorp, Peter M; Zook, Justin M; Carroll, Andrew; Jorde, Lynn B; Neklason, Deborah W; Quinlan, Aaron R; Eichler, Evan E; Eberle, Michael A

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

STRchive:一个动态资源,详细介绍串联重复疾病位点的群体水平和位点特异性见解

Hiatt, Laurel; Weisburd, Ben; Dolzhenko, Egor; Rubinetti, Vincent; Avvaru, Akshay K; VanNoy, Grace E; Kurtas, Nehir Edibe; Rehm, Heidi L; Quinlan, Aaron R; Dashnow, Harriet

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

利用全基因组方法在未确诊疾病网络队列中发现新的重复序列扩增疾病

Fazal, Sarah; Dashnow, Harriet; Dohrn, Maike F; Raposo, Jacquelyn; Hiatt, Laurel; Danzi, Matt C; Xu, Isaac R L; Toro, Camilo; Adams, David R; Usdin, Karen; Hayward, Bruce; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil R; Spillmann, Rebecca C; Shashi, Vandana; Rebelo, Adriana; Bademci, Guney; Tekin, Mustafa; Quinlan, Aaron R; Zuchner, Stephan

Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective

短串联重复序列疾病中的嵌合现象:临床视角

Doss, Rose M; Lopez-Ignacio, Susana; Dischler, Anna; Hiatt, Laurel; Dashnow, Harriet; Breuss, Martin W; Dias, Caroline M

Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain

长读长测序揭示人脑中脆性X染色体相关震颤/共济失调综合征存在广泛的FMR1体细胞嵌合现象

Dischler, Anna; Avvaru, Akshay; Lopez-Ignacio, Susana; Lau, Cristina; Breuss, Martin W; Cerdeño, Verónica Martínez; Dashnow, Harriet; Dias, Caroline M

Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.

多态性串联重复序列影响人类免疫系统中细胞类型特异性基因表达。

Tanudisastro Hope A, Cuomo Anna S E, Weisburd Ben, Welland Matthew, Spenceley Eleanor, Franklin Michael, Xue Angli, Bowen Blake, Wing Kristof, Tang Owen, Gray Michael, Reis Andre L M, Margoliash Jonathan, Kurtas Nehir E, Pullin Jeffrey M, Lee Arthur S, Brand Harrison, Harper Michael, Bobowik Katalina, Silk Michael, Marshall John, Bakiris Vivian, Madala Bindu Swapna, Uren Caitlin, Bartie Caitlin, Senabouth Anne, Dashnow Harriet, Fearnley Liam, Martin-Trujillo Alejandro, Dolzhenko Egor, Qiao Zhen, Grieve Stuart M, Nguyen Tung, Ben-David Eyal, Chen Ling, Farh Kyle Kai-How, Talkowski Michael, Alexander Stephen I, Siggs Owen M, Gruenschloss Leonhard, Nicholas Hannah R, Piscionere Jennifer, Simons Cas, Wallace Chris, Gymrek Melissa, Deveson Ira W, Hewitt Alex W, Figtree Gemma A, de Lange Katrina M, Powell Joseph E, MacArthur Daniel G

Characterization and visualization of tandem repeats at genome scale

基因组规模串联重复序列的表征和可视化

Dolzhenko, Egor; English, Adam; Dashnow, Harriet; De Sena Brandine, Guilherme; Mokveld, Tom; Rowell, William J; Karniski, Caitlin; Kronenberg, Zev; Danzi, Matt C; Cheung, Warren A; Bi, Chengpeng; Farrow, Emily; Wenger, Aaron; Chua, Khi Pin; Martínez-Cerdeño, Verónica; Bartley, Trevor D; Jin, Peng; Nelson, David L; Zuchner, Stephan; Pastinen, Tomi; Quinlan, Aaron R; Sedlazeck, Fritz J; Eberle, Michael A