Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
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M. Cowley | M. Dinger | A. Minoche | T. Roscioli | Meredith Wilson | B. Kamien | L. Adès | M. Morel-Kopp | A. Hackett | M. Field | A. Ronan | R. Shrestha | C. Ellaway | M. Freckmann | E. Palmer | E. Kirk | W. Stevenson | L. Ewans | D. Mowat | M. Buckley | Clare Puttick | V. Gayevskiy | A. Turner | Carey-Anne Evans | L. Worgan | Ying Zhu | R. Sachdev | G. Elakis | L. Goodwin | S. Rajagopalan | A. Colley | Corrina Walsh | Deborah Schofield | A. Drew | M. Lipke | C. Puttick
[1] S. Sandaradura,et al. Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency. , 2021, The Journal of molecular diagnostics : JMD.
[2] S. Kummerfeld,et al. ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data , 2020, Genome Medicine.
[3] V. Jobanputra,et al. The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic , 2020, Genome Medicine.
[4] T. Groza,et al. Impacts of genomics on the health and social costs of intellectual disability , 2020, Journal of Medical Genetics.
[5] David M. Thomas,et al. The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly , 2020, Nature Communications.
[6] Vladimir G. Gainullin,et al. Genome sequencing in persistently unsolved white matter disorders , 2020, Annals of clinical and translational neurology.
[7] David M. Thomas,et al. mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data , 2019, bioRxiv.
[8] S. Scherer,et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders , 2019, Genetics in Medicine.
[9] David G. Knowles,et al. Predicting Splicing from Primary Sequence with Deep Learning , 2019, Cell.
[10] Zornitza Stark,et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases , 2018, npj Genomic Medicine.
[11] Marcel E Dinger,et al. Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. , 2018, Journal of the American College of Cardiology.
[12] Joshua S. Paul,et al. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes , 2018, Genetics in Medicine.
[13] M. Cowley,et al. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders , 2018, Genetics in Medicine.
[14] M. Alfadhel,et al. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing , 2018, Genetics in Medicine.
[15] J. Lupski,et al. Genomic disorders 20 years on—mechanisms for clinical manifestations , 2018, Clinical genetics.
[16] Sarah Wordsworth,et al. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature , 2018, Genetics in medicine : official journal of the American College of Medical Genetics.
[17] Marcel E. Dinger,et al. Seave: a comprehensive web platform for storing and interrogating human genomic variation , 2018, bioRxiv.
[18] Laurie D. Smith,et al. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants , 2017, npj Genomic Medicine.
[19] Yi Jiang,et al. VarCards: an integrated genetic and clinical database for coding variants in the human genome , 2017, Nucleic Acids Res..
[20] Maitreya J. Dunham,et al. Variant Interpretation: Functional Assays to the Rescue. , 2017, American journal of human genetics.
[21] Daniele Merico,et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test , 2017, Genetics in Medicine.
[22] Thomas Meitinger,et al. Genetic diagnosis of Mendelian disorders via RNA sequencing , 2017, Nature Communications.
[23] Michael Brudno,et al. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine , 2016, npj Genomic Medicine.
[24] Gabor T. Marth,et al. A global reference for human genetic variation , 2015, Nature.
[25] Yongwook Choi,et al. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels , 2015, Bioinform..
[26] Davis J. McCarthy,et al. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders , 2015, Nature Genetics.
[27] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[28] Lei Shang,et al. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants , 2014, Proceedings of the National Academy of Sciences.
[29] L. Vissers,et al. Genome sequencing identifies major causes of severe intellectual disability , 2014, Nature.
[30] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[31] Mahdi Sarmady,et al. mtDNA Variation and Analysis Using Mitomap and Mitomaster , 2013, Current protocols in bioinformatics.
[32] Aaron R. Quinlan,et al. GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations , 2013, PLoS Comput. Biol..
[33] E. Banks,et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. , 2012, American journal of human genetics.
[34] Bradley P. Coe,et al. Copy number variation detection and genotyping from exome sequence data , 2012, Genome research.
[35] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration , 2012, Briefings Bioinform..
[36] P. Noris,et al. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. , 2011, American journal of human genetics.
[37] Josyf Mychaleckyj,et al. Robust relationship inference in genome-wide association studies , 2010, Bioinform..
[38] Christian Gilissen,et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. , 2010, American journal of human genetics.
[39] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[40] Lili Wan,et al. RNA and Disease , 2009, Cell.
[41] L. Lettice,et al. Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. , 2008, Human molecular genetics.
[42] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[43] MA Katharina Schwarze BSc,et al. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature , 2018, Genetics in Medicine.
[44] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.