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

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

Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling

Sawfish:利用局部单倍型模型改进长读长结构变异发现和基因分型

Saunders, Christopher T; Holt, James M; Baker, Daniel N; Lake, Juniper A; Belyeu, Jonathan R; Kronenberg, Zev; Rowell, William J; Eberle, Michael A

Jointly benchmarking small and structural variant calls with vcfdist

使用 vcfdist 联合对小型和结构变异调用进行基准测试

Dunn, Tim; Zook, Justin M; Holt, James M; Narayanasamy, Satish

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

FAM177A1 是一种定位于高尔基体的蛋白质,其功能丧失会导致一种新的神经发育障碍

Kohler Jennefer N, Legro Nicole R, Baldridge Dustin, Shin Jimann, Bowman Angela, Ugur Berrak, Jackstadt Madelyn M, Shriver Leah P, Patti Gary J, Zhang Bo, Feng Wenjia, McAdow Anthony R, Goddard Pagé, Ungar Rachel A, Jensen Tanner, Smith Kevin S, Fresard Laure, Alvarez Raquel, Bonner Devon, Reuter Chloe M, McCormack Colleen, Kravets Elijah, Marwaha Shruti, Holt James M, Worthey Elizabeth A, Ashley Euan A, Montgomery Stephen B, Fisher Paul G, Postlethwait John, De Camilli Pietro, Solnica-Krezel Lila, Bernstein Jonathan A, Wheeler Matthew T

StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data

StarPhase:用于长读长测序数据的综合性相位感知药物基因组学双端测序仪

Holt, James M; Harting, John; Chen, Xiao; Baker, Daniel; Saunders, Christopher T; Kronenberg, Zev; Gonzaludo, Nina; Yoo, Byunggil; Hudjashov, Georgi; Jõeloo, Maarja; Lawlor, James M J; Lim, Weng Khong; Jamuar, Saumya S; Cooper, Gregory M; Milani, Lili; Pastinen, Tomi; Eberle, Michael A

HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing

HiPhase:对来自 HiFi 测序的小型、结构性和串联重复序列变异进行联合定相

Holt, James M; Saunders, Christopher T; Rowell, William J; Kronenberg, Zev; Wenger, Aaron M; Eberle, Michael

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

多基因检测和基因组检测中报告的意义未明变异(VUS)现状:是时候改变了

Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle; Saunders, Carol J; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J; Thiffault, Isabelle; Thomas, Brittany C; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J; Towne, Meghan C; Zouk, Hana

Reducing Sanger confirmation testing through false positive prediction algorithms

通过假阳性预测算法减少桑格确认检验

Holt, James M; Kelly, Melissa; Sundlof, Brett; Nakouzi, Ghunwa; Bick, David; Lyon, Elaine

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis

应用全基因组测序分析囊性纤维化同胞的表型和预后

Wilk, Melissa A; Braun, Andrew T; Farrell, Philip M; Laxova, Anita; Brown, Donna M; Holt, James M; Birch, Camille L; Sosonkina, Nadiya; Wilk, Brandon M; Worthey, Elizabeth A

VarSight: prioritizing clinically reported variants with binary classification algorithms

VarSight:利用二元分类算法对临床报告的变异进行优先级排序

Holt, James M; Wilk, Brandon; Birch, Camille L; Brown, Donna M; Gajapathy, Manavalan; Moss, Alexander C; Sosonkina, Nadiya; Wilk, Melissa A; Anderson, Julie A; Harris, Jeremy M; Kelly, Jacob M; Shaterferdosian, Fariba; Uno-Antonison, Angelina E; Weborg, Arthur; Worthey, Elizabeth A