Author

Lisa Mahanta

Mass General BrighamORCID 0000-0003-0422-5840Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Genomics· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 4 Research Focus:variant calling· 4 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Assay:whole-genome sequencing· 3 Research Focus:database / resource· 2 Approach:experimental assay· 2 Research Focus:batch correction / integration· 1

Frequent Co-Authors

Heidi L. RehmiD· 3 shared Matthew S. LeboiD· 3 shared Hana ZoukiD· 2 shared Adam Gordon· 1 shared Adam H. BuchananiD· 1 shared Adithya BalasubramanianiD· 1 shared Alanna Kulchak RahmiD· 1 shared Alyssa Macbeth· 1 shared

Activity by Year

2018-2021 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Heidi L. RehmORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

GenomicsbioRxivPreprintDec 13, 2021

Genetic Sex Validation for Sample Tracking in Clinical Testing

Hai Hu, Viktoriya Korchina, Hana Zouk…·Donna Marie Muzny

The paper validates genetic sex using a 96-SNP PCR panel to track samples in clinical testing and identify inconsistencies.

DOI 10.1101/2021.12.13.470986

humanDNA methylation

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedNov 8, 2021

Returning Actionable Genomic Results in a Research Biobank: Analytic Validity, Clinical Implementation and Resource Utilization

Carrie L. Blout Zawatsky, Nidhi D Shah, Kalotina Machini…·Robert C. Green

This study evaluates the feasibility and costs of returning actionable genomic results from a biobank, finding high false positive rates in genotyping and significant under-testing among at-risk individuals.

72 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 11, 2021

Prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

Deanna Brockman, Christina Anne Austin-Tse, Renée C. Pelletier…·Miriam S. Udler

This study compares genome sequencing with standard-of-care genetic testing, finding similar diagnostic yields but longer turnaround times for genome sequencing.

31 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsThe American Journal of Human GeneticsPeer-reviewedAug 9, 2018

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

Marci L.B. Schwartz, Cara Zayac McCormick, Amanda L. Lazzeri…·Michael F. Murray

The paper describes a model for returning secondary genomic findings to participants and healthcare providers in a large research cohort, with 93% successful contact rates and 222 providers notified.

182 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky