Interpreting short tandem repeat variations in humans using mutational constraint

Genome-wide profiling of heritable and de novo STR variations

(2017) Thomas Willems et al.   NATURE METHODS

Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates

(2016) Thomas Willems et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

(2016) Swapan Mallick et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

(2016) G David Poznik et al.   NATURE GENETICS

Classification and characterization of microsatellite instability across 18 cancer types

(2016) Ronald J Hause et al.   NATURE MEDICINE

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans

(2016) Javier Quilez et al.   NUCLEIC ACIDS RESEARCH

Deep sequencing of 10,000 human genomes

(2016) Amalio Telenti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A method for calculating probabilities of fitness consequences for point mutations across the human genome

(2015) Brad Gulko et al.   NATURE GENETICS

The Y-chromosome point mutation rate in humans

(2015) Agnar Helgason et al.   NATURE GENETICS

Abundant contribution of short tandem repeats to gene expression variation in humans

(2015) Melissa Gymrek et al.   NATURE GENETICS

Inter-allelic interactions play a major role in microsatellite evolution

(2015) William Amos et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

The landscape of human STR variation

(2014) Thomas Willems et al.   GENOME RESEARCH

Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

(2014) Kaye N. Ballantyne et al.   HUMAN MUTATION

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

The overdue promise of short tandem repeat variation for heritability

(2014) Maximilian O. Press et al.   TRENDS IN GENETICS

De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype

(2013) G. Houge et al.   NEUROLOGY

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

lobSTR: A short tandem repeat profiler for personal genomes

(2012) Melissa Gymrek et al.   GENOME RESEARCH

Microsatellites as Targets of Natural Selection

(2012) R. J. Haasl et al.   MOLECULAR BIOLOGY AND EVOLUTION

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

(2012) Lei Sun et al.   NATURE GENETICS

fastsimcoal: a continuous-time coalescent simulator of genomic diversity under arbitrarily complex evolutionary scenarios

(2011) Laurent Excoffier et al.   BIOINFORMATICS

Inference of human population history from individual whole-genome sequences

(2011) Heng Li et al.   NATURE

Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications

(2010) Kaye N. Ballantyne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Mutation rate estimates for 110 Y-chromosome STRs combining population and father–son pair data

(2010) Concetta Burgarella et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS