Decomposing mosaic tandem repeats accurately from long reads

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

(2021) Christel Depienne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CentromereArchitect: inference and analysis of the architecture of centromeres

(2021) Tatiana Dvorkina et al.   BIOINFORMATICS

Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats

(2021) Meredith M. Course et al.   GENOME RESEARCH

Evolution of a Human-Specific Tandem Repeat Associated with ALS

(2020) Meredith M. Course et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The string decomposition problem and its applications to centromere analysis and assembly

(2020) Tatiana Dvorkina et al.   BIOINFORMATICS

Characterizing the Major Structural Variant Alleles of the Human Genome

(2019) Peter A. Audano et al.   CELL

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

(2019) Andrea Cortese et al.   NATURE GENETICS

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

(2019) Galen E.B. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

(2019) Egor Dolzhenko et al.   BIOINFORMATICS

Profiling the genome-wide landscape of tandem repeat expansions

(2019) Nima Mousavi et al.   NUCLEIC ACIDS RESEARCH

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

(2018) Arne De Roeck et al.   ACTA NEUROPATHOLOGICA

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Tandem repeats mediating genetic plasticity in health and disease

(2018) Anthony J. Hannan   NATURE REVIEWS GENETICS

Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia

(2018) Janet H.T. Song et al.   AMERICAN JOURNAL OF HUMAN GENETICS