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

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

(2021) Peter Ebert et al.   SCIENCE

Evolution of a Human-Specific Tandem Repeat Associated with ALS

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

Long-read human genome sequencing and its applications

(2020) Glennis A. Logsdon et al.   NATURE REVIEWS GENETICS

A high-coverage Neandertal genome from Chagyrskaya Cave

(2020) Fabrizio Mafessoni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A human-specific VNTR in the TRIB3 promoter causes gene expression variation between individuals

(2020) Tiit Örd et al.   PLoS Genetics

Characterizing the Major Structural Variant Alleles of the Human Genome

(2019) Peter A. Audano et al.   CELL

Human-specific tandem repeat expansion and differential gene expression during primate evolution

(2019) Arvis Sulovari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2018) Arne De Roeck et al.   ACTA NEUROPATHOLOGICA

Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking

(2018) Yuki Hamada et al.   MOLECULAR BIOLOGY OF THE CELL

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

A high-coverage Neandertal genome from Vindija Cave in Croatia

(2017) Kay Prüfer et al.   SCIENCE

Application of t-SNE to human genetic data

(2017) Wentian Li et al.   Journal of Bioinformatics and Computational Biology

Ultrafast Comparison of Personal Genomes via Precomputed Genome Fingerprints

(2017) Gustavo Glusman et al.   Frontiers in Genetics

GeneBase 1.1: a tool to summarize data from NCBI gene datasets and its application to an update of human gene statistics

(2016) Allison Piovesan et al.   Database-The Journal of Biological Databases and Curation

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The subtelomeric region is important for chromosome recognition and pairing during meiosis

(2014) María del Carmen Calderón et al.   Scientific Reports

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

(2013) Aideen M. McInerney-Leo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

(2013) Andrew Kirby et al.   NATURE GENETICS

Evidence of widespread selection on standing variation in Europe at height-associated SNPs

(2012) Michael C Turchin et al.   NATURE GENETICS

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

(2010) Ingrid L Berg et al.   NATURE GENETICS

Identification of ten loci associated with height highlights new biological pathways in human growth

(2008) Guillaume Lettre et al.   NATURE GENETICS