Published in Nature on November 10, 2014
A global reference for human genetic variation. Nature (2015) 12.85
Assembling large genomes with single-molecule sequencing and locality-sensitive hashing. Nat Biotechnol (2015) 3.66
An integrated map of structural variation in 2,504 human genomes. Nature (2015) 3.30
Coming of age: ten years of next-generation sequencing technologies. Nat Rev Genet (2016) 2.48
Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genome. Genome Res (2015) 1.89
Medical implications of technical accuracy in genome sequencing. Genome Med (2016) 1.86
Assembly and diploid architecture of an individual human genome via single-molecule technologies. Nat Methods (2015) 1.83
Abundant contribution of short tandem repeats to gene expression variation in humans. Nat Genet (2015) 1.74
PacBio Sequencing and Its Applications. Genomics Proteomics Bioinformatics (2015) 1.57
Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding. PLoS Genet (2016) 1.49
Characterizing polymorphic inversions in human genomes by single-cell sequencing. Genome Res (2016) 1.45
High-throughput sequencing technologies. Mol Cell (2015) 1.42
Genome assembly using Nanopore-guided long and error-free DNA reads. BMC Genomics (2015) 1.40
Genetic variation and the de novo assembly of human genomes. Nat Rev Genet (2015) 1.24
Detection of Genomic Structural Variants from Next-Generation Sequencing Data. Front Bioeng Biotechnol (2015) 1.17
Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges. Cancers (Basel) (2015) 1.01
Transposable element detection from whole genome sequence data. Mob DNA (2015) 0.99
Accurate typing of short tandem repeats from genome-wide sequencing data and its applications. Genome Res (2015) 0.96
Human Structural Variation: Mechanisms of Chromosome Rearrangements. Trends Genet (2015) 0.93
Long-read sequencing and de novo assembly of a Chinese genome. Nat Commun (2016) 0.93
Oxford Nanopore MinION Sequencing and Genome Assembly. Genomics Proteomics Bioinformatics (2016) 0.92
A hybrid approach for de novo human genome sequence assembly and phasing. Nat Methods (2016) 0.92
A unique chromatin complex occupies young α-satellite arrays of human centromeres. Sci Adv (2015) 0.90
New insights into the generation and role of de novo mutations in health and disease. Genome Biol (2016) 0.88
22q11.2 deletion syndrome. Nat Rev Dis Prim (2015) 0.87
MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals. Genome Res (2015) 0.87
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res (2017) 0.86
A cytosine-thymine (CT)-rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimer's disease and affects SNCA expression. Alzheimers Dement (2015) 0.86
BioNano genome mapping of individual chromosomes supports physical mapping and sequence assembly in complex plant genomes. Plant Biotechnol J (2016) 0.86
Single-Molecule Real-Time Sequencing Combined with Optical Mapping Yields Completely Finished Fungal Genome. MBio (2015) 0.86
Structural variation discovery in the cancer genome using next generation sequencing: computational solutions and perspectives. Oncotarget (2015) 0.85
How retrotransposons shape genome regulation. Curr Opin Genet Dev (2016) 0.85
Genomic DNA transposition induced by human PGBD5. Elife (2015) 0.85
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet (2016) 0.84
Biological data sciences in genome research. Genome Res (2015) 0.83
Unraveling the 3D genome: genomics tools for multiscale exploration. Trends Genet (2015) 0.83
A New Chicken Genome Assembly Provides Insight into Avian Genome Structure. G3 (Bethesda) (2016) 0.82
Discovery and characterization of Alu repeat sequences via precise local read assembly. Nucleic Acids Res (2015) 0.81
Contrasting evolutionary genome dynamics between domesticated and wild yeasts. Nat Genet (2017) 0.81
Assembly of long error-prone reads using de Bruijn graphs. Proc Natl Acad Sci U S A (2016) 0.81
An Incomplete Understanding of Human Genetic Variation. Genetics (2016) 0.81
Benchmarking of de novo assembly algorithms for Nanopore data reveals optimal performance of OLC approaches. BMC Genomics (2016) 0.81
Completing the human genome: the progress and challenge of satellite DNA assembly. Chromosome Res (2015) 0.81
Read clouds uncover variation in complex regions of the human genome. Genome Res (2015) 0.81
A High-Resolution SNP Array-Based Linkage Map Anchors a New Domestic Cat Draft Genome Assembly and Provides Detailed Patterns of Recombination. G3 (Bethesda) (2016) 0.80
Wham: Identifying Structural Variants of Biological Consequence. PLoS Comput Biol (2015) 0.80
Unraveling the message: insights into comparative genomics of the naked mole-rat. Mamm Genome (2016) 0.80
Next-Generation Sequencing Approaches in Cancer: Where Have They Brought Us and Where Will They Take Us? Cancers (Basel) (2015) 0.80
Genetic Approaches to Understanding Psychiatric Disease. Neurotherapeutics (2017) 0.80
Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Res (2016) 0.80
Allele-Specific Quantification of Structural Variations in Cancer Genomes. Cell Syst (2016) 0.79
The molecular evolutionary dynamics of the vomeronasal receptor (class 1) genes in primates: a gene family on the verge of a functional breakdown. Front Neuroanat (2014) 0.79
Resolving the Complexity of Human Skin Metagenomes Using Single-Molecule Sequencing. MBio (2016) 0.79
CRISPR-CAS9 D10A nickase target-specific fluorescent labeling of double strand DNA for whole genome mapping and structural variation analysis. Nucleic Acids Res (2015) 0.79
International Standards for Genomes, Transcriptomes, and Metagenomes. J Biomol Tech (2017) 0.79
ABySS 2.0: resource-efficient assembly of large genomes using a Bloom filter. Genome Res (2017) 0.79
Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives. Biomed Res Int (2015) 0.78
Human adaptation and evolution by segmental duplication. Curr Opin Genet Dev (2016) 0.78
A high quality assembly of the Nile Tilapia (Oreochromis niloticus) genome reveals the structure of two sex determination regions. BMC Genomics (2017) 0.77
Genome graphs and the evolution of genome inference. Genome Res (2017) 0.77
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. Nat Commun (2016) 0.77
Complete telomere-to-telomere de novo assembly of the Plasmodium falciparum genome through long-read (>11 kb), single molecule, real-time sequencing. DNA Res (2016) 0.77
Counting copy number and calories. Nat Genet (2015) 0.77
Whole genome? Nat Genet (2015) 0.77
The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery. Cell Oncol (Dordr) (2016) 0.77
DNA sequencing technologies: 2006-2016. Nat Protoc (2017) 0.76
Filling in the Gap of Human Chromosome 4: Single Molecule Real Time Sequencing of Macrosatellite Repeats in the Facioscapulohumeral Muscular Dystrophy Locus. PLoS One (2016) 0.76
Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations. Int J Mol Sci (2016) 0.76
The evolution and population diversity of human-specific segmental duplications. Nat Ecol Evol (2017) 0.76
Quality Control of the Traditional Patent Medicine Yimu Wan Based on SMRT Sequencing and DNA Barcoding. Front Plant Sci (2017) 0.76
Detecting non-allelic homologous recombination from high-throughput sequencing data. Genome Biol (2015) 0.75
Resolving complex structural genomic rearrangements using a randomized approach. Genome Biol (2016) 0.75
Haplotypes drop by drop. Nat Biotechnol (2016) 0.75
The Value and Significance of Metagenomics of Marine Environments. Genomics Proteomics Bioinformatics (2015) 0.75
Improved assembly of noisy long reads by k-mer validation. Genome Res (2016) 0.75
Genomic structure of the horse major histocompatibility complex class II region resolved using PacBio long-read sequencing technology. Sci Rep (2017) 0.75
An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes. Nat Commun (2016) 0.75
CRISPR-Cas9-targeted fragmentation and selective sequencing enable massively parallel microsatellite analysis. Nat Commun (2017) 0.75
The dentin phosphoprotein repeat region and inherited defects of dentin. Mol Genet Genomic Med (2015) 0.75
De novo assembly of Dekkera bruxellensis: a multi technology approach using short and long-read sequencing and optical mapping. Gigascience (2015) 0.75
Alternate-locus aware variant calling in whole genome sequencing. Genome Med (2016) 0.75
The draft genome of MD-2 pineapple using hybrid error correction of long reads. DNA Res (2016) 0.75
L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes. Nucleic Acids Res (2016) 0.75
Genome assembly from synthetic long read clouds. Bioinformatics (2016) 0.75
Beyond the reference genome. Nat Biotechnol (2015) 0.75
A genome-wide approach for detecting novel insertion-deletion variants of mid-range size. Nucleic Acids Res (2016) 0.75
Next-generation sequencing-based detection of germline L1-mediated transductions. BMC Genomics (2016) 0.75
HySA: A Hybrid Structural variant Assembly approach using next generation and single-molecule sequencing technologies. Genome Res (2017) 0.75
Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements. Front Genet (2016) 0.75
MethSMRT: an integrative database for DNA N6-methyladenine and N4-methylcytosine generated by single-molecular real-time sequencing. Nucleic Acids Res (2016) 0.75
A new molecular signature method for prediction of driver cancer pathways from transcriptional data. Nucleic Acids Res (2016) 0.75
Single-molecule sequencing resolves the detailed structure of complex satellite DNA loci in Drosophila melanogaster. Genome Res (2017) 0.75
Deciphering Complexity in Molecular Biophysics with Single-Molecule Resolution. J Mol Biol (2015) 0.75
REPdenovo: Inferring De Novo Repeat Motifs from Short Sequence Reads. PLoS One (2016) 0.75
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol (2017) 0.75
Analysis of single nucleic acid molecules in micro- and nano-fluidics. Lab Chip (2016) 0.75
Diversity in non-repetitive human sequences not found in the reference genome. Nat Genet (2017) 0.75
The combination of direct and paired link graphs can boost repetitive genome assembly. Nucleic Acids Res (2016) 0.75
Hybrid sequencing and map finding (HySeMaFi): optional strategies for extensively deciphering gene splicing and expression in organisms without reference genome. Sci Rep (2017) 0.75
Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis. Hum Mol Genet (2016) 0.75
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The sequence of the human genome. Science (2001) 101.55
The International HapMap Project. Nature (2003) 73.65
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
Finishing the euchromatic sequence of the human genome. Nature (2004) 41.40
A whole-genome assembly of Drosophila. Science (2000) 38.48
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nat Methods (2013) 31.15
Real-time DNA sequencing from single polymerase molecules. Science (2008) 29.53
A high-resolution recombination map of the human genome. Nat Genet (2002) 28.66
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Mapping single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application and theory. BMC Bioinformatics (2012) 6.16
Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. Genome Biol (2010) 6.07
Closing gaps in the human genome with fosmid resources generated from multiple individuals. Nat Genet (2007) 4.30
CENSOR--a program for identification and elimination of repetitive elements from DNA sequences. Comput Chem (1996) 4.09
Miropeats: graphical DNA sequence comparisons. Comput Appl Biosci (1995) 3.41
A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell (2010) 3.22
A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet (2011) 3.14
Reconstructing complex regions of genomes using long-read sequencing technology. Genome Res (2014) 2.63
An assessment of the sequence gaps: unfinished business in a finished human genome. Nat Rev Genet (2004) 2.51
Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score. Bioinformatics (2012) 1.64
Single haplotype assembly of the human genome from a hydatidiform mole. Genome Res (2014) 1.44
Using population admixture to help complete maps of the human genome. Nat Genet (2013) 1.35
Molecular cloning of a translocation breakpoint hotspot in 22q11. Genome Res (2007) 1.22
A vast collection of microbial genes that are toxic to bacteria. Genome Res (2012) 1.19
De novo assembly and phasing of a Korean human genome. Nature (2016) 0.94
Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Res (2016) 0.80
The evolution and population diversity of human-specific segmental duplications. Nat Ecol Evol (2017) 0.75