Example Input Data for HAT-FLEX

Laboratory of Tychele N. Turner, Ph.D. Washington University in St. Louis This data repository contains example data for use with HAT-FLEX. It contains DeepVariant and GATK family-level VCFs from two families from the 1000 Genomes Project. This data was originally published in: Ng JK, Vats P, Fritz-Waters E, Sarkar S, Sams EI, Padhi EM, Payne ZL, Leonard S, West MA, Prince C, Trani L, Jansen M, Vacek G, Samadi M, Harkins TT, Pohl C, Turner TN. de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project. Hum Mutat. 2022 Dec;43(12):1979-1993. doi: 10.1002/humu.24455. Epub 2022 Sep 10. PMID: 36054329; PMCID: PMC9771978. If using this data, please cite the above reference and the reference below for HAT: Ng JK, Turner TN. HAT: de novo variant calling for highly accurate short-read and long-read sequencing data. Bioinformatics. 2024 Jan 2;40(1):btad775. doi: 10.1093/bioinformatics/btad775. PMID: 38175776; PMCID: PMC10777354.