Published in Genome Res on October 10, 2014
Coming of age: ten years of next-generation sequencing technologies. Nat Rev Genet (2016) 2.48
Medical implications of technical accuracy in genome sequencing. Genome Med (2016) 1.86
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data. PLoS Genet (2015) 1.12
Whole-Genome Sequencing to Evaluate the Resistance Landscape Following Antimalarial Treatment Failure With Fosmidomycin-Clindamycin. J Infect Dis (2016) 0.93
Evaluation of two highly-multiplexed custom panels for massively parallel semiconductor sequencing on paraffin DNA. PLoS One (2015) 0.83
The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome. PLoS Comput Biol (2015) 0.82
Genotype-Frequency Estimation from High-Throughput Sequencing Data. Genetics (2015) 0.82
GBS-SNP-CROP: a reference-optional pipeline for SNP discovery and plant germplasm characterization using variable length, paired-end genotyping-by-sequencing data. BMC Bioinformatics (2016) 0.80
Removing reference mapping biases using limited or no genotype data identifies allelic differences in protein binding at disease-associated loci. BMC Med Genomics (2015) 0.78
Advantages of Array-Based Technologies for Pre-Emptive Pharmacogenomics Testing. Microarrays (Basel) (2016) 0.76
Adaptation of A-to-I RNA editing in Drosophila. PLoS Genet (2017) 0.75
Evaluation of the accuracy of imputed sequence variant genotypes and their utility for causal variant detection in cattle. Genet Sel Evol (2017) 0.75
RNA editing generates cellular subsets with diverse sequence within populations. Nat Commun (2016) 0.75
Identification by the DArTseq method of the genetic origin of the Coffea canephora cultivated in Vietnam and Mexico. BMC Plant Biol (2016) 0.75
A Mismatch EndoNuclease Array-Based Methodology (MENA) for Identifying Known SNPs or Novel Point Mutations. Microarrays (Basel) (2016) 0.75
Reproducibility of SNV-calling in multiple sequencing runs from single tumors. PeerJ (2016) 0.75
An efficient study design to test parent-of-origin effects in family trios. Genet Epidemiol (2017) 0.75
Forensic genetics and genomics: Much more than just a human affair. PLoS Genet (2017) 0.75
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics (2010) 52.01
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acids Res (2008) 26.36
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science (2009) 21.24
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Performance comparison of exome DNA sequencing technologies. Nat Biotechnol (2011) 7.11
Sequence-specific error profile of Illumina sequencers. Nucleic Acids Res (2011) 6.88
Performance comparison of whole-genome sequencing platforms. Nat Biotechnol (2011) 5.79
Improved base calling for the Illumina Genome Analyzer using machine learning strategies. Genome Biol (2009) 5.64
Characterizing and measuring bias in sequence data. Genome Biol (2013) 4.39
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet (2010) 2.19
Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing. Nat Biotechnol (2011) 2.10
Quantifying single nucleotide variant detection sensitivity in exome sequencing. BMC Bioinformatics (2013) 1.41