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Determinants of Base Editing Outcomes from Target Library Analysis and Machine Learning

Cell, 2020-07, Vol.182 (2), p.463-480.e30

2020

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Predictable and precise template-free CRISPR editing of pathogenic variants

Nature (London), 2018-11, Vol.563 (7733), p.646-651

2018

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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

Nature communications, 2020-08, Vol.11 (1), p.3635-3635, Article 3635

2020

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

Nature communications, 2023-04, Vol.14 (1), p.2230-14, Article 2230

2023

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The missing link between genetic association and regulatory function

eLife, 2022-12, Vol.11

2022

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Estimating the selective effects of heterozygous protein-truncating variants from human exome data

Nature genetics, 2017-05, Vol.49 (5), p.806-810

2017

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Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

PLoS genetics, 2015-08, Vol.11 (8), p.e1005436-e1005436

2015

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Machine learning based CRISPR gRNA design for therapeutic exon skipping

PLoS computational biology, 2021-01, Vol.17 (1), p.e1008605-e1008605

2021

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Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility

Genome research, 2012-03, Vol.22 (3), p.421-428

2012

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Revealing the spatial distribution of a disease while preserving privacy

Proceedings of the National Academy of Sciences - PNAS, 2008-11, Vol.105 (46), p.17608-17613

2008

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Estimating clinical risk in gene regions from population sequencing cohort data

American journal of human genetics, 2023-06, Vol.110 (6), p.940-949

2023

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Identification of cis-suppression of human disease mutations by comparative genomics

Nature (London), 2015-08, Vol.524 (7564), p.225-229

2015

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Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

Human mutation, 2013-09, Vol.34 (9), p.1216-1220

2013

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

Genetics in medicine, 2023-01, Vol.25 (1), p.16-26

2023

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Twitter as a sentinel in emergency situations: lessons from the Boston marathon explosions

PLoS currents, 2013-07, Vol.5

2013

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Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification

Nature genetics, 2024-05, Vol.56 (5), p.925-937

2024

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Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Nature genetics, 2020-11, Vol.52 (11), p.1145-1150

2020

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Mitigating False-Positive Associations in Rare Disease Gene Discovery

Human mutation, 2015-10, Vol.36 (10), p.998-1003

2015

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Re-identification of home addresses from spatial locations anonymized by Gaussian skew

International journal of health geographics, 2008-08, Vol.7 (1), p.45-45

2008

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A literature review at genome scale: improving clinical variant assessment

Genetics in medicine, 2018-09, Vol.20 (9), p.936-941

2018

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Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

JAMA network open, 2020-04, Vol.3 (4), p.e203959-e203959

2020

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An unsupervised classification method for inferring original case locations from low-resolution disease maps

International journal of health geographics, 2006-12, Vol.5 (1), p.56-56

2006

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My sister's keeper?: genomic research and the identifiability of siblings

BMC medical genomics, 2008-07, Vol.1 (1), p.32-32, Article 32

2008

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Reply to 'Selective effects of heterozygous protein-truncating variants'

Nature genetics, 2019-01, Vol.51 (1), p.3-4

2019

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Determinants of Base Editing Outcomes from Target Library Analysis and Machine Learning

Predictable and precise template-free CRISPR editing of pathogenic variants

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

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

The missing link between genetic association and regulatory function

Estimating the selective effects of heterozygous protein-truncating variants from human exome data

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

Machine learning based CRISPR gRNA design for therapeutic exon skipping

Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility

Revealing the spatial distribution of a disease while preserving privacy

Estimating clinical risk in gene regions from population sequencing cohort data

Identification of cis-suppression of human disease mutations by comparative genomics

Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

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

Twitter as a sentinel in emergency situations: lessons from the Boston marathon explosions

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Mitigating False-Positive Associations in Rare Disease Gene Discovery

Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer

Re-identification of home addresses from spatial locations anonymized by Gaussian skew

A literature review at genome scale: improving clinical variant assessment

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

An unsupervised classification method for inferring original case locations from low-resolution disease maps

My sister's keeper?: genomic research and the identifiability of siblings

Reply to 'Selective effects of heterozygous protein-truncating variants'

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