Article
Characterization of subclonal variants in HG002 Genome in a Bottle reference material as a resource for benchmarking variant callers.
Cell genomics - 8 Apr 2026
Daniels Camille A, Abdulkadir Adetola A, Cleveland Megan H, McDaniel Jennifer H, Jáspez David, Rubio-Rodríguez Luis Alberto, Muñoz-Barrera Adrián, Lorenzo-Salazar José Miguel, Flores Carlos, Yoo Byunggil, Ebrahim Sahraeian Sayed Mohammad, Wang Yina, Rossi Massimiliano, Visvanath Arun, Murray Lisa, Chen Wei-Ting, Catreux Severine, Han James, Mehio Rami, Parnaby Gavin, Carroll Andrew, Chang Pi-Chuan, Shafin Kishwar, Cook Daniel, Kolesnikov Alexey, Brambrink Lucas, Eeman Mootor Mohammed Faizal, Patel Yash, Yamaguchi Takafumi N, Boutros Paul C, Sienkiewicz Karolina, Foox Jonathan, Mason Christopher E, Lajoie Bryan R, Ruiz-Perez Carlos A, Kruglyak Semyon, Zook Justin M, Olson Nathan D
Abstract excerpt
We developed a benchmark set of subclonal variants in the Genome in a Bottle (GIAB) Consortium HG002 reference material (RM) DNA for evaluating lower-frequency variant callsets. We used a somatic variant caller with high-coverage (300×) whole-genome sequencing data from the GIAB Ashkenazi Jewish trio to identify potential subclonal variants in the HG002 RM DNA. Using orthogonal sequencing data and manual...
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