resource source identifier software Search Results


free and open-source software resources  (FOSS GmbH)
90
FOSS GmbH free and open-source software resources
Free And Open Source Software Resources, supplied by FOSS GmbH, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/resource+source+identifier+software/free+and+open+source+software+resources/pmc06742231-82-24-26
Average 90 stars, based on 1 article reviews
free and open-source software resources - by Bioz Stars, 2026-10
90/100 stars
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open-source database and software  (ClinGen Resource)
90
ClinGen Resource open-source database and software
Components of the framework for routine reinterpretation of individual genetic variants.
Open Source Database And Software, supplied by ClinGen Resource, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/resource+source+identifier+software/open+source+database+and+software/pmc10408279-0-9-15
Average 90 stars, based on 1 article reviews
open-source database and software - by Bioz Stars, 2026-10
90/100 stars
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resource source identifier chipqc package  (10X Genomics)
86
10X Genomics resource source identifier chipqc package
Components of the framework for routine reinterpretation of individual genetic variants.
Resource Source Identifier Chipqc Package, supplied by 10X Genomics, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/resource+source+identifier+software/identifier+resource+software+source/pm33296702-822-2-49
Average 86 stars, based on 1 article reviews
resource source identifier chipqc package - by Bioz Stars, 2026-10
86/100 stars
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resource source identifier software  (Abaqus Inc)
86
Abaqus Inc resource source identifier software
Components of the framework for routine reinterpretation of individual genetic variants.
Resource Source Identifier Software, supplied by Abaqus Inc, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/resource+source+identifier+software/identifier+resource+software+source/pm40763692-151-2-8
Average 86 stars, based on 1 article reviews
resource source identifier software - by Bioz Stars, 2026-10
86/100 stars
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resource source identifier software  (Thorlabs)
86
Thorlabs resource source identifier software
Components of the framework for routine reinterpretation of individual genetic variants.
Resource Source Identifier Software, supplied by Thorlabs, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/resource+source+identifier+software/identifier+resource+software+source/pm41391146-279-2-29
Average 86 stars, based on 1 article reviews
resource source identifier software - by Bioz Stars, 2026-10
86/100 stars
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source software resources  (Photonics Inc)
86
Photonics Inc source software resources
Components of the framework for routine reinterpretation of individual genetic variants.
Source Software Resources, supplied by Photonics Inc, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/resource+source+identifier+software/open+resources+software+source/10__3390_slash_coatings15060646-250-4-11
Average 86 stars, based on 1 article reviews
source software resources - by Bioz Stars, 2026-10
86/100 stars
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agr2dsp  (Genechem)
86
Genechem agr2dsp
Components of the framework for routine reinterpretation of individual genetic variants.
Agr2dsp, supplied by Genechem, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/resource+source+identifier+software/a+a+a+agr2c81a+expression+genechem+genechem+genechem+gv354+gv715+identifier+luciferase+luciferase+n+n+n+resource+software+source+vector+vector+vector/pm34303658-400-7-18
Average 86 stars, based on 1 article reviews
agr2dsp - by Bioz Stars, 2026-10
86/100 stars
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resource source identifier software  (Tree Star Inc)
86
Tree Star Inc resource source identifier software
Components of the framework for routine reinterpretation of individual genetic variants.
Resource Source Identifier Software, supplied by Tree Star Inc, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/resource+source+identifier+software/identifier+resource+software+source/pm35640610-189-2-20
Average 86 stars, based on 1 article reviews
resource source identifier software - by Bioz Stars, 2026-10
86/100 stars
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resource source identifier bprom software  (Softberry Inc)
86
Softberry Inc resource source identifier bprom software
Components of the framework for routine reinterpretation of individual genetic variants.
Resource Source Identifier Bprom Software, supplied by Softberry Inc, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/resource+source+identifier+software/bprom+identifier+resource+software+source/pm32976813-533-2-8
Average 86 stars, based on 1 article reviews
resource source identifier bprom software - by Bioz Stars, 2026-10
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Image Search Results


Components of the framework for routine reinterpretation of individual genetic variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Article Title: Practical Considerations for Reinterpretation of Individual Genetic Variants

doi: 10.1016/j.gim.2023.100801

Figure Lengend Snippet: Components of the framework for routine reinterpretation of individual genetic variants.

Article Snippet: Infrastructure Needed to Support Implementation , • Development of open-source database and software supported by ClinGen and ClinVar to allow for affordable and automated ways of identifying variants with new data and with classifications by other laboratories • Laboratories’ building and maintenance of databases of their own variants and interpretations, contributing data to ClinVar, and establishing parameters that trigger variant reinterpretation • Standardized data model of variant-level information, including variants and variant metadata, to automate identification of variants with discrepant interpretations and aggregate evidence to support reinterpretation.

Techniques: Software, Variant Assay