Author

Colin C. Young

Ambry Genetics (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:benchmarking· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Research Focus:database / resource· 1 Assay:DNA methylation· 1 Organism:human· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Sean V. TavtigianiD· 2 shared Álvaro N.A. MonteiroiD· 1 shared Amanda B. SpurdleiD· 1 shared Bing FengiD· 1 shared Clare TurnbulliD· 1 shared Colin B. MackenzieiD· 1 shared Donglei HuiD· 1 shared Elad ZiviD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 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

Sean V. TavtigianORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

Marcy E. Richardson, Megan A. Holdren, Terra Brannan, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian, Colin C. Young, Lauren Zec, Susan C. Hiraki, Michael J. Anderson, Logan C. Walker, Shannon M. McNulty, Clare Turnbull, Marc D. Tischkowitz, Katherine R. Schon, , Fergus J. Couch

The paper specifies gene-specific rules for interpreting ATM variants using ACMG/AMP guidelines, improving classification accuracy in a pilot study.

medRxiv · May 28, 2024 · PreprintGenetic & Genomic Medicine

Evaluation of ACMG Rules for In silico Evidence Strength Using An Independent Computational Tool Absent of Circularities on ATM and CHEK2 Breast Cancer Cases and Controls

Colin C. Young, Bing Feng, Colin B. Mackenzie, Elodie Girard, Donglei Hu, Yusuke Iwasaki, Yukihide Momozawa, Fabienne Lesueur, Elad Ziv, Susan L. Neuhausen, Sean V. Tavtigian

The paper evaluates the ACMG PP3 and BP4 rules using Align-GVGD on ATM and CHEK2 data, finding that severe Align-GVGD grades exceed a moderate pathogenic threshold in a Bayesian framework.

bioRxiv · Nov 8, 2019 · PreprintGenetics