So many recent publications from HG labs! This list is a work in progress. Check back while we get caught up with updates, and keep sending us your news-

• From Mick Jurynec, postdoc Shiv Veerabhadraiah, and collaborators - see the full article here

• From the Quinlan lab, featuring * MD/PhD student Laurel Hiatt and other *s

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci. Hiatt L, Weisburd B, Dolzhenko E, Rubinetti V, Avvaru AK, VanNoy GE, Kurtas NE, Rehm HL, Quinlan AR, Dashnow H. Genome Med. 2025 Mar 26;17(1):29. doi: 10.1186/s13073-025-01454-4. open access

Abstract Approximately 8% of the human genome consists of repetitive elements called tandem repeats (TRs): short tandem repeats (STRs) of 1–6 bp motifs and variable number tandem repeats (VNTRs) of 7+ bp motifs. TR variants contribute to several dozen monogenic diseases but remain understudied and enigmatic. It remains comparatively challeng- ing to interpret the clinical significance of TR variants, particularly relative to single nucleotide variants. We present STRchive (http://strchive.org/), a dynamic resource consolidating information on TR disease loci from the research literature, up-to-date clinical resources, and large-scale genomic databases, streamlining TR variant interpretation at disease-associated loci.

• Also from the Quinlan lab: it's a new tool for analysis of VCF files!

Vcfexpress: flexible, rapid user-expressions to filter and format VCFs. Pedersen BS, Quinlan AR. Bioinformatics. 2025 Mar 4;41(3):btaf097. doi: 10.1093/bioinformatics/btaf097. check it out