Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications
The data underlying this article are available in the European Nucleo-tide Archive under project accession PRJEB87628.
Authors
- James Han (ORCID: https://orcid.org/0009-0002-0333-7568)
- Shunhua Han (ORCID: https://orcid.org/0000-0002-8605-7547)
- Sean A. Irvine
- Pavana Anur
- Raúl Torres (ORCID: https://orcid.org/0000-0001-9606-0398)
- Vitor Onuchic (ORCID: https://orcid.org/0000-0002-3284-8837)
- Peter B. Kang (ORCID: https://orcid.org/0000-0002-4270-7325)
- Kelly Potts (ORCID: https://orcid.org/0000-0002-0897-2803)
- Lewis J. Kraft (ORCID: https://orcid.org/0000-0001-8663-0596)
- Yeonghun Lee (ORCID: https://orcid.org/0000-0003-1785-4785)
- Francisco M. De La Vega
- Sean Truong (ORCID: https://orcid.org/0009-0005-7584-2688)
Institutions
- Palo Alto University (US)
- Illumina (United States) (US)
- Tempus Labs (United States) (US)
- Genomics (United Kingdom) (GB)
- Real-Time Innovations (United States) (US)
- Stanford University (US)
Publication Details
- Journal
- Bioinformatics Advances
- Published
- 2024-12-26
- DOI
- https://doi.org/10.1093/bioadv/vbaf071
- Citations
- 2
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Broad Institute