Author

Tina M. Hambuch

Invitae (United States)ORCID 0000-0002-5812-4431Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Shimul ChowdhuryiD· 2 shared Aditi Chawla· 1 shared Alicia ScocchiaiD· 1 shared Alison J. CoffeyiD· 1 shared Alka MalhotraiD· 1 shared Amirah Khouzam· 1 shared Andrew M. GrossiD· 1 shared ANDREW P. FELLOWESiD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 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

2 shared papersGenetic & Genomic Medicine

Shimul ChowdhuryORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 18, 2021

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Stephen E. Lincoln, Tina M. Hambuch, Justin M. Zook…·Robert Luke Nussbaum

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

91 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsGenetics in MedicinePeer-reviewedOct 3, 2018

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

Andrew M. Gross, Subramanian S. Ajay, Vani Rajan…·Ryan J. Taft

This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.

115 citationstop 2%

humanwhole-genome sequencing

𝕏 PostBluesky