Published in Bioinformatics on June 27, 2014
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Health and population effects of rare gene knockouts in adult humans with related parents. Science (2016) 1.90
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci (2016) 1.78
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Single haplotype assembly of the human genome from a hydatidiform mole. Genome Res (2014) 1.44
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Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med (2014) 1.30
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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals. Nat Commun (2015) 1.23
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An improved genome assembly uncovers prolific tandem repeats in Atlantic cod. BMC Genomics (2017) 0.82
Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms. Diagn Pathol (2016) 0.82
Whole genome re-sequencing of date palms yields insights into diversification of a fruit tree crop. Nat Commun (2015) 0.81
Whole Genome Sequencing of Field Isolates Reveals Extensive Genetic Diversity in Plasmodium vivax from Colombia. PLoS Negl Trop Dis (2015) 0.81
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nat Neurosci (2016) 0.79
In-depth comparison of somatic point mutation callers based on different tumor next-generation sequencing depth data. Sci Rep (2016) 0.79
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. Hum Mutat (2017) 0.78
An investigation of causes of false positive single nucleotide polymorphisms using simulated reads from a small eukaryote genome. BMC Bioinformatics (2015) 0.78
Human Germline Mutation and the Erratic Evolutionary Clock. PLoS Biol (2016) 0.78
Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat. Mol Hum Reprod (2015) 0.78
A Primer on Infectious Disease Bacterial Genomics. Clin Microbiol Rev (2016) 0.78
Discovery, genotyping and characterization of structural variation and novel sequence at single nucleotide resolution from de novo genome assemblies on a population scale. Gigascience (2015) 0.78
ExScalibur: A High-Performance Cloud-Enabled Suite for Whole Exome Germline and Somatic Mutation Identification. PLoS One (2015) 0.77
RNASequel: accurate and repeat tolerant realignment of RNA-seq reads. Nucleic Acids Res (2015) 0.77
Sister chromatid telomere fusions, but not NHEJ-mediated inter-chromosomal telomere fusions, occur independently of DNA ligases 3 and 4. Genome Res (2016) 0.77
Dissemination of Novel Antimicrobial Resistance Mechanisms through the Insertion Sequence Mediated Spread of Metabolic Genes. Front Microbiol (2016) 0.77
Bulk Segregant Analysis Reveals the Genetic Basis of a Natural Trait Variation in Fission Yeast. Genome Biol Evol (2015) 0.76
The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes. BMC Genomics (2015) 0.76
Genome sequencing reveals a new lineage associated with lablab bean and genetic exchange between Xanthomonas axonopodis pv. phaseoli and Xanthomonas fuscans subsp. fuscans. Front Microbiol (2015) 0.76
Sequence Diversity, Intersubgroup Relationships, and Origins of the Mouse Leukemia Gammaretroviruses of Laboratory and Wild Mice. J Virol (2016) 0.76
Germline PARP4 mutations in patients with primary thyroid and breast cancers. Endocr Relat Cancer (2015) 0.76
High-quality de novo assembly of the apple genome and methylome dynamics of early fruit development. Nat Genet (2017) 0.76
Ultra-fast local-haplotype variant calling using paired-end DNA-sequencing data reveals somatic mosaicism in tumor and normal blood samples. Nucleic Acids Res (2015) 0.75
The assessment of inter-individual variation of whole-genome DNA sequence in 32 cows. Mamm Genome (2015) 0.75
Sequence analysis of pooled bacterial samples enables identification of strain variation in group A streptococcus. Sci Rep (2017) 0.75
TreeToReads - a pipeline for simulating raw reads from phylogenies. BMC Bioinformatics (2017) 0.75
Germline Variants of Prostate Cancer in Japanese Families. PLoS One (2016) 0.75
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. Physiol Genomics (2016) 0.75
The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression. Nat Commun (2017) 0.75
High-Throughput Resequencing of Maize Landraces at Genomic Regions Associated with Flowering Time. PLoS One (2017) 0.75
TALEN/CRISPR-mediated engineering of a promoterless anti-viral RNAi hairpin into an endogenous miRNA locus. Nucleic Acids Res (2016) 0.75
Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine. Oncotarget (2016) 0.75
The Impact of Genotyping-by-Sequencing Pipelines on SNP Discovery and Identification of Markers Associated with Verticillium Wilt Resistance in Autotetraploid Alfalfa (Medicago sativa L.). Front Plant Sci (2017) 0.75
RNA-seq analysis of impact of PNN on gene expression and alternative splicing in corneal epithelial cells. Mol Vis (2016) 0.75
Variant profiling of evolving prokaryotic populations. PeerJ (2017) 0.75
A genome-wide approach for detecting novel insertion-deletion variants of mid-range size. Nucleic Acids Res (2016) 0.75
The variability and reproducibility of whole genome sequencing technology for detecting resistance to anti-tuberculous drugs. Genome Med (2016) 0.75
An analytical workflow for accurate variant discovery in highly divergent regions. BMC Genomics (2016) 0.75
Delayed Otolith Development Does Not Impair Vestibular Circuit Formation in Zebrafish. J Assoc Res Otolaryngol (2017) 0.75
The sole introduction of two single-point mutations establishes glycerol utilization in Saccharomyces cerevisiae CEN.PK derivatives. Biotechnol Biofuels (2017) 0.75
Genomic variation in two gametocyte non-producing Plasmodium falciparum clonal lines. Malar J (2016) 0.75
Analysis of optimal alignments unfolds aligners' bias in existing variant profiles. BMC Bioinformatics (2016) 0.75
Detailed simulation of cancer exome sequencing data reveals differences and common limitations of variant callers. BMC Bioinformatics (2017) 0.75
Complete Genome Sequence of Bovine Polyomavirus Type 1 from Aborted Cattle, Isolated in Belgium in 2014. Genome Announc (2016) 0.75
Next Generation Sequencing of Pooled Samples: Guideline for Variants' Filtering. Sci Rep (2016) 0.75
Impact of post-alignment processing in variant discovery from whole exome data. BMC Bioinformatics (2016) 0.75
Complexity and diversity of F8 genetic variations in the 1000 genomes. J Thromb Haemost (2015) 0.75
Analysis of archived residual newborn screening blood spots after whole genome amplification. BMC Genomics (2015) 0.75
Natural Allelic Variations in Highly Polyploidy Saccharum Complex. Front Plant Sci (2016) 0.75
Positional bias in variant calls against draft reference assemblies. BMC Genomics (2017) 0.75
A cancer cell-line titration series for evaluating somatic classification. BMC Res Notes (2015) 0.75
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel. Eur J Hum Genet (2017) 0.75
A tandem simulation framework for predicting mapping quality. Genome Biol (2017) 0.75
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res (2008) 157.44
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Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
Fast gapped-read alignment with Bowtie 2. Nat Methods (2012) 83.79
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
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The diploid genome sequence of an Asian individual. Nature (2008) 46.29
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A survey of sequence alignment algorithms for next-generation sequencing. Brief Bioinform (2010) 18.05
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Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
Dindel: accurate indel calls from short-read data. Genome Res (2010) 8.62
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics (2011) 8.19
Inference of human population history from individual whole-genome sequences. Nature (2011) 8.05
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
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SomaticSniper: identification of somatic point mutations in whole genome sequencing data. Bioinformatics (2011) 5.62
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls. Nat Biotechnol (2014) 4.07
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Emerging patterns of somatic mutations in cancer. Nat Rev Genet (2013) 2.50
Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly. Bioinformatics (2012) 2.46
lobSTR: A short tandem repeat profiler for personal genomes. Genome Res (2012) 2.08
Detecting and annotating genetic variations using the HugeSeq pipeline. Nat Biotechnol (2012) 1.72
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Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA. Genome Biol (2010) 1.56
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A comparative analysis of algorithms for somatic SNV detection in cancer. Bioinformatics (2013) 1.51
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Accurate de novo and transmitted indel detection in exome-capture data using microassembly. Nat Methods (2014) 1.50
Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals. Bioinformatics (2014) 1.39
Comparing somatic mutation-callers: beyond Venn diagrams. BMC Bioinformatics (2013) 1.35
The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing. Hum Genet (2013) 1.27
Confidence-based somatic mutation evaluation and prioritization. PLoS Comput Biol (2012) 1.25
SMaSH: a benchmarking toolkit for human genome variant calling. Bioinformatics (2014) 1.02
A simple consensus approach improves somatic mutation prediction accuracy. Genome Med (2013) 1.01
In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencing. BMC Genomics (2012) 0.99