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Author Details
Full Name
Lawrence Babb
Affiliation
Broad Institute of MIT and Harvard
ORCID
Career Start Year
2011
Papers
20
H Index
13
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36540993
Development and application of a computable genotype model in the GA4GH Variation Representation Specification.
Pac Symp Biocomput
2023
37860057
Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants.
Learn Health Syst
2023
36541006
Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
Pac Symp Biocomput
2023
35266241
seqr: A web-based analysis and collaboration tool for rare disease genomics.
Hum Mutat
2022
35507016
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med
2022
34890165
An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics.
Pac Symp Biocomput
2022
35311178
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.
Cell Genom
2021
33930535
Genomic considerations for FHIR®; eMERGE implementation lessons.
J Biomed Inform
2021
35072136
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Cell Genom
2021
30311374
ClinGen Allele Registry links information about genetic variants.
Hum Mutat
2018
29860405
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.
J Am Med Inform Assoc
2018
30311379
ClinGen advancing genomic data-sharing standards as a GA4GH driver project.
Hum Mutat
2018
28081714
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Genome Med
2017
28315672
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.
J Mol Diagn
2017
26805890
Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.
J Pers Med
2016
25611685
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genet Med
2015
25835197
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genet Med
2015
24013137
A novel clinician interface to improve clinician access to up-to-date genetic results.
J Am Med Inform Assoc
2014
22481129
Communicating new knowledge on previously reported genetic variants.
Genet Med
2012
21432942
The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing.
Hum Mutat
2011
1 - 20 of 20
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Aleksandar Milosavljevic
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Matthew H Brush
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Chris Bizon
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Harvard Medical School, Brigham and Women's Hospital
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Piotr Pawliczek
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Reece K Hart
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Mathew W Wright
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