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

Extracting and calibrating evidence of variant pathogenicity from population biobank data

从人群生物样本库数据中提取和校准变异致病性证据

Bhat, Vineel; Yu, Tian; Brown, Lara; Pejaver, Vikas; Lebo, Matthew; Harrison, Steven; Cassa, Christopher A

LDLR variant classification through activity-normalized prime editing screening

通过活性归一化先导编辑筛选进行LDLR变异分类

Zhou, Phillip J; Velimirovic, Minja; Yu, Tian; Gligorovski, Vojislav; Mathis, Nicolas; Zhao, Jing; Phan, Quang Vinh; Vogd, Felicitas; Ryu, Jayoung; Pan, Qisheng; Tyagi, Atharva; Ascher, David B; Schwank, Gerald; Pinello, Luca; Cassa, Christopher A; Sherwood, Richard I

FUSE: Improving the estimation and imputation of variant impacts in functional screening

FUSE:改进功能筛选中变异影响的估计和推断

Yu, Tian; Fife, James D; Bhat, Vineel; Adzhubey, Ivan; Sherwood, Richard; Cassa, Christopher A

DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features

DeMAG通过整合结构和进化上位性特征来预测临床可操作基因中变异的影响。

Luppino, Federica; Adzhubei, Ivan A; Cassa, Christopher A; Toth-Petroczy, Agnes

Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria)

利用先前分类中的结构化证据(PS1、PM5 和 PVS1 序列变异解释标准)为变异评估提供信息

Bhat, Vineel; Adzhubei, Ivan A; Fife, James D; Lebo, Matthew; Cassa, Christopher A

Joint estimation and imputation of variant functional effects using high throughput assay data

利用高通量检测数据对变异体的功能效应进行联合估计和插补

Yu, Tian; Fife, James D; Adzhubey, Ivan; Sherwood, Richard; Cassa, Christopher A

The missing link between genetic association and regulatory function

基因关联与调控功能之间缺失的环节

Connally, Noah J; Nazeen, Sumaiya; Lee, Daniel; Shi, Huwenbo; Stamatoyannopoulos, John; Chun, Sung; Cotsapas, Chris; Cassa, Christopher A; Sunyaev, Shamil R

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

STXBP3 的变异与极早期发病的炎症性肠病、双侧感觉神经性听力损失和免疫失调有关

Ouahed Jodie, Kelsen Judith R, Spessott Waldo A, Kooshesh Kameron, Sanmillan Maria L, Dawany Noor, Sullivan Kathleen E, Hamilton Kathryn E, Slowik Voytek, Nejentsev Sergey, Neves João Farela, Flores Helena, Chung Wendy K, Wilson Ashley, Anyane-Yeboa Kwame, Wou Karen, Jain Preti, Field Michael, Tollefson Sophia, Dent Maiah H, Li Dalin, Naito Takeo, McGovern Dermot P B, Kwong Andrew C, Taliaferro Faith, Ordovas-Montanes Jose, Horwitz Bruce H, Kotlarz Daniel, Klein Christoph, Evans Jonathan, Dorsey Jill, Warner Neil, Elkadri Abdul, Muise Aleixo M, Goldsmith Jeffrey, Thompson Benjamin, Engelhardt Karin R, Cant Andrew J, Hambleton Sophie, Barclay Andrew, Toth-Petroczy Agnes, Vuzman Dana, Carmichael Nikkola, Bodea Corneliu, Cassa Christopher A, Devoto Marcella, Maas Richard L, Behrens Edward M, Giraudo Claudio G, Snapper Scott B

Machine learning based CRISPR gRNA design for therapeutic exon skipping

基于机器学习的CRISPR gRNA设计用于治疗性外显子跳跃

Louie, Wilson; Shen, Max W; Tahiry, Zakir; Zhang, Sophia; Worstell, Daniel; Cassa, Christopher A; Sherwood, Richard I; Gifford, David K

A literature review at genome scale: improving clinical variant assessment

基因组规模的文献综述:改进临床变异评估

Cassa, Christopher A; Jordan, Daniel M; Adzhubei, Ivan; Sunyaev, Shamil