TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data

TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data

(2020) Davide Bolognini et al.   GigaScience

NanoR: A user-friendly R package to analyze and compare nanopore sequencing data

(2019) Davide Bolognini et al.   PLoS One

Long-Read Sequencing Emerging in Medical Genetics

(2019) Tuomo Mantere et al.   Frontiers in Genetics

TideHunter: efficient and sensitive tandem repeat detection from noisy long-reads using seed-and-chain

(2019) Yan Gao et al.   BIOINFORMATICS

Noise-cancelling repeat finder: uncovering tandem repeats in error-prone long-read sequencing data

(2019) Robert S Harris et al.   BIOINFORMATICS

Multi-platform discovery of haplotype-resolved structural variation in human genomes

(2019) Mark J. P. Chaisson et al.   Nature Communications

Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing

(2019) Peter Edge et al.   Nature Communications

Evolutionary and functional impact of common polymorphic inversions in the human genome

(2019) Carla Giner-Delgado et al.   Nature Communications

Versatile genome assembly evaluation with QUAST-LG

(2018) Alla Mikheenko et al.   BIOINFORMATICS

Minimap2: pairwise alignment for nucleotide sequences

(2018) Heng Li   BIOINFORMATICS

Tandem repeats mediating genetic plasticity in health and disease

(2018) Anthony J. Hannan   NATURE REVIEWS GENETICS

Alfred: interactive multi-sample BAM alignment statistics, feature counting and feature annotation for long- and short-read sequencing

(2018) Tobias Rausch et al.   BIOINFORMATICS

Fast and accurate de novo genome assembly from long uncorrected reads

(2017) Robert Vaser et al.   GENOME RESEARCH

Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes

(2016) Dirk D. Dolle et al.   GENOME RESEARCH

Resolving complex tandem repeats with long reads

(2014) Ajay Ummat et al.   BIOINFORMATICS

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

(2013) Koichiro Doi et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

lobSTR: A short tandem repeat profiler for personal genomes

(2012) Melissa Gymrek et al.   GENOME RESEARCH

Shannon Entropy Analysis of the Genome Code

(2012) J. A. Tenreiro Machado   MATHEMATICAL PROBLEMS IN ENGINEERING

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles

(2012) Gareth Highnam et al.   NUCLEIC ACIDS RESEARCH

Repetitive Elements May Comprise Over Two-Thirds of the Human Genome

(2011) A. P. Jason de Koning et al.   PLoS Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Comparative Genomics and Molecular Dynamics of DNA Repeats in Eukaryotes

(2008) G.-F. Richard et al.   MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS