The paper analyzes disease-associated tandem repeat loci across diverse populations using long-read data, revealing ancestry-specific variation and complex genotype-phenotype relationships.

Nature Communications · Aug 6, 2026Peer-reviewedGenetic & Genomic Medicine

A comprehensive tandem repeat catalog of the human genome

Readman Chiu, Indhu‐Shree Rajan‐Babu, Jan M Friedman, İnanç BİROL

The paper creates a comprehensive catalog of tandem repeat loci in the human genome using long-read sequencing data from 272 genomes.

Nature Communications · Jan 28, 2026Peer-reviewedGenetic & Genomic Medicine

REViewer: Haplotype-resolved visualization of read alignments in and around tandem repeats

Egor Dolzhenko, Ben Weisburd, Kristina Ibáñez, Indhu‐Shree Rajan‐Babu, Christine Anyansi, Mark F. Bennett, Kimberley J. Billingsley, Ashley Carroll, Samuel E. Clamons, Matt Christopher Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, , Michael A. Eberle

REViewer visualizes sequencing data around long repeat expansions by reconstructing haplotypes and aligning reads, improving the assessment of repeat genotype calls and detecting interruptions.

Genome Medicine · Aug 10, 2022Peer-reviewedBioinformatics

Genome-Wide Sequencing as a First-Tier Screening Test for Short Tandem Repeat Expansions

Indhu‐Shree Rajan‐Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, Patricia H. Birch, Madeline Couse, Colleen Guimond, Anna Lehman, Jill C. Mwenifumbo, Clara van Karnebeek, Jan M. Friedman, CAUSES Study, Shelin Adam, Christèle du Souich, Alison M. Elliott, , İnanç Birol

The paper evaluates STR detection tools and develops a pipeline to identify pathogenic expansions in exome/genome data, finding 27 samples with STR mutations in 306 families.

Genome Medicine · Aug 9, 2021Peer-reviewedGenetics