ALCHEMY
ALCHEMY calls diploid genotypes from raw intensity data to enable accurate high-throughput multiplexed SNP genotyping and downstream genetic analyses in species such as Oryza sativa.
Key Features:
- Automated diploid genotype calling: Processes raw intensity data from multiplexed SNP genotyping methods to produce diploid genotype calls without manual clustering.
- Statistical modeling framework: Analyzes raw intensity data directly using a statistical model rather than modelless clustering approaches that require large training sets.
- Per-sample inbreeding integration: Incorporates individual-level inbreeding information to improve discrimination between homozygous and heterozygous states.
- Concurrent handling of inbred and heterozygous samples: Genotypes inbred and heterozygous samples within the same analysis run.
- High accuracy with small sample sizes: Reports accuracy exceeding 99% with sample sizes as low as 18 samples.
- Platform versatility: Operates on raw intensity outputs from a variety of high-throughput genotyping platforms and multiplexed SNP assays.
Scientific Applications:
- Precise genotype calling for genetic studies: Provides high-confidence genotypes for studies that require accurate SNP calls.
- Complex trait analysis: Supports genotype data generation for mapping and association studies of complex traits.
- Population genetics: Enables allele frequency and population structure analyses using accurate genotype calls.
- Breeding programs: Supplies reliable genotypes for marker-assisted selection and breeding decision-making.
- Small-sample and conservation studies: Facilitates genotyping in studies with limited sample sizes, including research on rare or endangered species.
- Oryza sativa genotyping: Applicable to custom genotyping products and studies in domestic rice (Oryza sativa).
Methodology:
Employs a statistical modeling framework that analyzes raw intensity data directly, integrates individual-level inbreeding information, and avoids modelless clustering approaches that require large datasets or extensive training samples.
Topics
Details
- Tool Type:
- command-line tool
- Operating Systems:
- Linux, Mac
- Programming Languages:
- C
- Added:
- 12/18/2017
- Last Updated:
- 11/24/2024
Operations
Publications
Wright MH, Tung C, Zhao K, Reynolds A, McCouch SR, Bustamante CD. ALCHEMY: a reliable method for automated SNP genotype calling for small batch sizes and highly homozygous populations. Bioinformatics. 2010;26(23):2952-2960. doi:10.1093/bioinformatics/btq533. PMID:20926420. PMCID:PMC2982150.