Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1756-994X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation ; volume:11 ; number:1 ; day:20 ; month:12 ; year:2019 ; pages:1-11 ; date:12.2019
Genome medicine ; 11, Heft 1 (20.12.2019), 1-11, 12.2019

Creator: Gelman, Hannah
Dines, Jennifer N.
Berg, Jonathan
Berger, Alice H.
Brnich, Sarah
Hisama, Fuki M.
James, Richard G.
Rubin, Alan F.
Shendure, Jay
Shirts, Brian
Fowler, Douglas M.
Starita, Lea M.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13073-019-0698-7

URN: urn:nbn:de:101:1-2020040906055841113343

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:00 AM CEST

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Associated

Gelman, Hannah
Dines, Jennifer N.
Berg, Jonathan
Berger, Alice H.
Brnich, Sarah
Hisama, Fuki M.
James, Richard G.
Rubin, Alan F.
Shendure, Jay
Shirts, Brian
Fowler, Douglas M.
Starita, Lea M.
SpringerLink (Online service)

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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

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Multiplexed base editing through Cas12a variant-mediated cytosine and adenine base editors

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Multiplexed miRNA biosensor for pediatric cancer diagnostics

Polarization multiplexed interrogation technique for FBG sensor array

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Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

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Other Objects (12)

satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect

Minimum information and guidelines for reporting a multiplexed assay of variant effect

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Multiplexed assays of variant effects contribute to a growing genotype–phenotype atlas

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

Multiplexed base editing through Cas12a variant-mediated cytosine and adenine base editors

mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data

Multiplexed miRNA biosensor for pediatric cancer diagnostics

Polarization multiplexed interrogation technique for FBG sensor array

Robust normalization protocols for multiplexed fluorescence bioimage analysis

satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect

Minimum information and guidelines for reporting a multiplexed assay of variant effect

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Multiplexed assays of variant effects contribute to a growing genotype–phenotype atlas

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

Multiplexed base editing through Cas12a variant-mediated cytosine and adenine base editors

mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data

Multiplexed miRNA biosensor for pediatric cancer diagnostics

Polarization multiplexed interrogation technique for FBG sensor array

Robust normalization protocols for multiplexed fluorescence bioimage analysis

satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect

Minimum information and guidelines for reporting a multiplexed assay of variant effect

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Multiplexed assays of variant effects contribute to a growing genotype–phenotype atlas

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

Multiplexed base editing through Cas12a variant-mediated cytosine and adenine base editors

mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data

Multiplexed miRNA biosensor for pediatric cancer diagnostics

Polarization multiplexed interrogation technique for FBG sensor array

Robust normalization protocols for multiplexed fluorescence bioimage analysis

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