Detalhe da pesquisa
1.
Determinants of Base Editing Outcomes from Target Library Analysis and Machine Learning.
Cell
; 182(2): 463-480.e30, 2020 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533916
2.
Estimating clinical risk in gene regions from population sequencing cohort data.
Am J Hum Genet
; 110(6): 940-949, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37236177
3.
Author Correction: Predictable and precise template-free CRISPR editing of pathogenic variants.
Nature
; 567(7746): E1-E2, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30765887
4.
Predictable and precise template-free CRISPR editing of pathogenic variants.
Nature
; 563(7733): 646-651, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30405244
5.
Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).
Genet Med
; 25(1): 16-26, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305854
6.
Machine learning based CRISPR gRNA design for therapeutic exon skipping.
PLoS Comput Biol
; 17(1): e1008605, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417623
7.
Identification of cis-suppression of human disease mutations by comparative genomics.
Nature
; 524(7564): 225-9, 2015 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123021
8.
A literature review at genome scale: improving clinical variant assessment.
Genet Med
; 20(9): 936-941, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388949
9.
Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck.
PLoS Genet
; 11(8): e1005436, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26317225
10.
Mitigating false-positive associations in rare disease gene discovery.
Hum Mutat
; 36(10): 998-1003, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26378430
11.
Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility.
Genome Res
; 22(3): 421-8, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22147367
12.
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Nat Genet
; 56(5): 925-937, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38658794
13.
Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.
Hum Mutat
; 34(9): 1216-20, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23818451
14.
Estimating clinical risk in gene regions from population sequencing cohort data.
medRxiv
; 2023 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711752
15.
Joint estimation and imputation of variant functional effects using high throughput assay data.
medRxiv
; 2023 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711907
16.
DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features.
Nat Commun
; 14(1): 2230, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076482
17.
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
medRxiv
; 2023 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37732177
18.
Systematic elucidation of genetic mechanisms underlying cholesterol uptake.
bioRxiv
; 2023 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711952
19.
Systematic elucidation of genetic mechanisms underlying cholesterol uptake.
Cell Genom
; 3(5): 100304, 2023 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37228746
20.
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations.
Bioinformatics
; 27(6): 891-3, 2011 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21258063