Completing the human genome: the progress and challenge of satellite DNA assembly

Canonical, stable, general mapping using context schemes

(2015) Adam M. Novak et al.   BIOINFORMATICS

Transcription of tandemly repetitive DNA: functional roles

(2015) Maria Assunta Biscotti et al.   CHROMOSOME RESEARCH

Building a Pan-Genome Reference for a Population

(2015) Ngan Nguyen et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Improved data analysis for the MinION nanopore sequencer

(2015) Miten Jain et al.   NATURE METHODS

Utilizing mapping targets of sequences underrepresented in the reference assembly to reduce false positive alignments

(2015) Karen H. Miga et al.   NUCLEIC ACIDS RESEARCH

Centromere reference models for human chromosomes X and Y satellite arrays

(2014) K. H. Miga et al.   GENOME RESEARCH

Reconstructing complex regions of genomes using long-read sequencing technology

(2014) J. Huddleston et al.   GENOME RESEARCH

Resolving the complexity of the human genome using single-molecule sequencing

(2014) Mark J. P. Chaisson et al.   NATURE

Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing

(2014) Sasan Amini et al.   NATURE GENETICS

Genomic Characterization of Large Heterochromatic Gaps in the Human Genome Assembly

(2014) Nicolas Altemose et al.   PLoS Computational Biology

Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions

(2013) Joshua N Burton et al.   NATURE BIOTECHNOLOGY

Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm

(2012) Jianbin Wang et al.   CELL

Human centromere genomics: now it's personal

(2012) Karen E. Hayden   CHROMOSOME RESEARCH

Sequences Associated with Centromere Competency in the Human Genome

(2012) K. E. Hayden et al.   MOLECULAR AND CELLULAR BIOLOGY

Hybrid error correction and de novo assembly of single-molecule sequencing reads

(2012) Sergey Koren et al.   NATURE BIOTECHNOLOGY

Preparation of megabase-sized DNA from a variety of organisms using the nuclei method for advanced genomics research

(2012) Meiping Zhang et al.   Nature Protocols

Mind the Gap: Upgrading Genomes with Pacific Biosciences RS Long-Read Sequencing Technology

(2012) Adam C. English et al.   PLoS One

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE