Genome Analysis Toolkit

Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

Biallelic vs Multiallelic sites Follow

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    I have a question: How can we check whether they are genuinely (known) multi-allelic or not?

    Also, a comment on this post - the line "Show below is a toy example in which the consensus sequences for samples 1-3 have a deletion or a SNP at the 7th position. Sample 4 matches the reference." has been repeated in explanation section of multi-allele scenario. I suppose that could be removed or modified.

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