Projects

Platinum Pedigree A comprehensive reference for human genetic variation in a four-generation, 28-member family (CEPH 1463)

We employed five different short and long-read sequencing technologies to generate phased assemblies and characterize both inherited and de novo variation.

STRchive Short Tandem Repeat Archive (pronouced "S-T-archive")

A database of STRs associated with disease in humans.

TRGT Tandem Repeat Genotyping Tool (pronounced "target")

TRGT genotypes tandem repeats from PacBio HiFi long read data and visualizes them with TRVZ.

STRling A computational method to call short tandem repeat expansions at known and novel loci (pronounced "sterling").

STRling can detect novel expansions where there is no STR in the reference genome, or an alternate motif.

STRretch A computational method to detecting short tandem repeat expansions from short-read sequencing data.

STRling can detect novel expansions where there is no STR in the reference genome, or an alternate motif.