Tumor ploidy determination in low-pass whole genome sequencing and allelic copy number visualization using the Constellation Plot

Tumor ploidy determination in low-pass whole genome sequencing and allelic copy number visualization using the Constellation Plot

Abstract Ploidy determination across the genome has been challenging for low-pass-WGS tumor-only samples. We present BACDAC, a method that calculates tumor ploidy down to 1.2X effective tumor coverage. Allele fraction patterns displayed in the Constellation Plot verify tumor ploidy and reveal subclo...

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Bibliographic Details
Main Authors: Sarah H. Johnson, James B. Smadbeck, Roman M. Zenka, Michael T. Barrett, Athanasios Gaitatzes, Arnav Solanki, Angela B. Florio, Mitesh J. Borad, John C. Cheville, George Vasmatzis
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Genome Biology
Subjects:
Next generation sequencing
Ploidy
Whole genome doubling
Loss of heterozygosity
Online Access:https://doi.org/10.1186/s13059-025-03599-2
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https://doi.org/10.1186/s13059-025-03599-2

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