Concepedia

Jackie Tahiliani

JT

4

Publications

1.2K

Citations

4

H-Index

2015

Active since

Affiliations

Invitae (United States)(Current)

Massachusetts General Hospital

Melbourne Genomics Health Alliance

Guy's and St Thomas' NHS Foundation Trust

National Institutes of Health

Jackie Tahiliani is an author at Invitae (United States) specializing in bioinformatics, genomics, and genetics.

Top concepts

GeneticsGenomicsMedicineBioinformaticsOmicsPathologySequencingSystems BiologyGenetic MedicineMolecular Diagnostics

Publications per year

2015–2022

4

Publications

4

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1K citations · Full text

Bioinformatics, Long-read Sequencing, Whole-exome Sequencing +9

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Marina T. DiStefano, Scott Goehringer, Lawrence Babb et al. · Genetics in Medicine · 2022 · 145 citations · Full text

Bioinformatics Database, Global Effort, Genetics +9

Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity

John Garcia, Jackie Tahiliani, Nicole M. Johnson et al. · Frontiers in Cardiovascular Medicine · 2016 · 24 citations · Full text

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Marina T. DiStefano, Scott Goehringer, Lawrence Babb et al. · 2022 · 17 citations · Full text

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