Published in Genome Med on March 27, 2013
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A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nat Commun (2015) 1.47
Comparing a few SNP calling algorithms using low-coverage sequencing data. BMC Bioinformatics (2013) 1.36
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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
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Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc (2015) 1.07
Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches. Cancer Genet (2013) 1.06
Effective filtering strategies to improve data quality from population-based whole exome sequencing studies. BMC Bioinformatics (2014) 1.06
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High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer. Genome Biol (2015) 0.89
Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease. BMC Genomics (2014) 0.88
Detailed comparison of two popular variant calling packages for exome and targeted exon studies. PeerJ (2014) 0.88
Population genetics identifies challenges in analyzing rare variants. Genet Epidemiol (2015) 0.87
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Novel bioinformatic developments for exome sequencing. Hum Genet (2016) 0.86
Guanine holes are prominent targets for mutation in cancer and inherited disease. PLoS Genet (2013) 0.86
Identification and validation of loss of function variants in clinical contexts. Mol Genet Genomic Med (2013) 0.85
Prevalence of Titin Truncating Variants in General Population. PLoS One (2015) 0.85
Genotyping by sequencing approaches to characterise crop genomes: choosing the right tool for the right application. Plant Biotechnol J (2016) 0.85
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Towards a European consensus for reporting incidental findings during clinical NGS testing. Eur J Hum Genet (2015) 0.84
DRAW+SneakPeek: analysis workflow and quality metric management for DNA-seq experiments. Bioinformatics (2013) 0.83
Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies. PLoS One (2015) 0.83
Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples. PLoS One (2015) 0.82
SeqMule: automated pipeline for analysis of human exome/genome sequencing data. Sci Rep (2015) 0.82
Personalized targeted therapy for esophageal squamous cell carcinoma. World J Gastroenterol (2015) 0.82
Targeted Sequencing Reveals Large-Scale Sequence Polymorphism in Maize Candidate Genes for Biomass Production and Composition. PLoS One (2015) 0.82
Whole-exome sequencing of over 4100 men of African ancestry and prostate cancer risk. Hum Mol Genet (2015) 0.81
TruePrime is a novel method for whole-genome amplification from single cells based on TthPrimPol. Nat Commun (2016) 0.81
Comparison of custom capture for targeted next-generation DNA sequencing. J Mol Diagn (2015) 0.81
Genomic variation among populations of threatened coral: Acropora cervicornis. BMC Genomics (2016) 0.81
Species-wide genome sequence and nucleotide polymorphisms from the model allopolyploid plant Brassica napus. Sci Data (2015) 0.81
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Quality control metrics improve repeatability and reproducibility of single-nucleotide variants derived from whole-genome sequencing. Pharmacogenomics J (2014) 0.79
Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics (2015) 0.78
Genomic data sharing for translational research and diagnostics. Genome Med (2014) 0.78
Lessons learned from gene identification studies in Mendelian epilepsy disorders. Eur J Hum Genet (2015) 0.78
Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes. Bioinformatics (2014) 0.78
Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis. J Neuromuscul Dis (2015) 0.78
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"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline. BMC Med Genomics (2014) 0.77
ExScalibur: A High-Performance Cloud-Enabled Suite for Whole Exome Germline and Somatic Mutation Identification. PLoS One (2015) 0.77
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person. PeerJ (2013) 0.77
Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data. Curr Protoc Hum Genet (2014) 0.77
The National Clinical Trials Network: Conducting Successful Clinical Trials of New Therapies for Rare Cancers. Semin Oncol (2015) 0.77
Advantages of Array-Based Technologies for Pre-Emptive Pharmacogenomics Testing. Microarrays (Basel) (2016) 0.76
Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken. BMC Genomics (2015) 0.76
Suitability of Different Mapping Algorithms for Genome-wide Polymorphism Scans with Pool-Seq Data. G3 (Bethesda) (2016) 0.76
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing. Hum Mutat (2016) 0.76
The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes. BMC Genomics (2015) 0.76
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. Cold Spring Harb Mol Case Stud (2015) 0.76
SCN8A mutation in a child presenting with seizures and developmental delays. Cold Spring Harb Mol Case Stud (2016) 0.76
A simple data-adaptive probabilistic variant calling model. Algorithms Mol Biol (2015) 0.75
DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation. Biomed Res Int (2015) 0.75
Heterozygous genome assembly via binary classification of homologous sequence. BMC Bioinformatics (2015) 0.75
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The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
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De novo assembly of human genomes with massively parallel short read sequencing. Genome Res (2009) 45.91
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
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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
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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
SNP detection for massively parallel whole-genome resequencing. Genome Res (2009) 15.96
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
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An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res (2006) 11.60
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet (2012) 11.29
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Genotype and SNP calling from next-generation sequencing data. Nat Rev Genet (2011) 8.34
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science (2012) 7.94
Performance comparison of whole-genome sequencing platforms. Nat Biotechnol (2011) 5.79
Low-coverage sequencing: implications for design of complex trait association studies. Genome Res (2011) 5.34
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A fast, powerful method for detecting identity by descent. Am J Hum Genet (2011) 4.26
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Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells. Nature (2012) 3.74
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De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat Genet (2012) 3.49
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet (2011) 3.20
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Microindel detection in short-read sequence data. Bioinformatics (2010) 2.73
Phasing of many thousands of genotyped samples. Am J Hum Genet (2012) 2.47
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Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing. Nat Biotechnol (2011) 2.10
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Detecting and annotating genetic variations using the HugeSeq pipeline. Nat Biotechnol (2012) 1.72
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