2020 Jul 5;6(4):224-238. doi: 10.1016/j.cdtm.2020.05.006. al. Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy. al. Euan A. Ashley is a Founder of Personalis Inc., Deep Cell Inc, and advisor to Genome Medical and SequenceBio. DNA from 330 probands (age range, 0‐68 years) with suspected genetic disorders were subjected to whole exome sequencing. Background: Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. USA.gov. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the clinical exome sequencing offered in the Medical Genetics Laboratory and Whole Genome Laboratory and the authors who are faculty members are indicated in the affiliation section on the title page. Objective:To characterize the diagnostic yield of combined … Heart. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. 2020 Aug 25;6(4):a005165. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies Publication Publication. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. HHS RESEARCH ARTICLE Increasing the diagnostic yield of exome sequencing by copy number variant analysis Daniel S. Marchuk ID 1, Kristy Crooks2, Natasha Strande ID 1,2, Kathleen Kaiser-Rogers1,2,3, Laura V. Milko1, Alicia Brandt ID 1, Alexandra Arreola2¤, Christian R. Tilley ID 1, Chris Bizon4, Neeta L. Vora5, Kirk C. Wilhelmsen1,4, James P. Evans1, Jonathan S. Berg1* In addition, an evaluation of the clinical characteristics that influence the likelihood of identifying a genetic cause and assessed the potential impact of the genetic diagnosis on … 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. mutations for the rest continue to be discovered, primarily by whole exome sequencing (WES).1,2 In a group of patients suspected to have genetic diseases, the diagnostic rate of WES has been found to range from 30% to 40%, a variation that may be attributed to the numbers and phenotypes of enrolled patients and the anthropologic characteristics of study • Whole exome sequencing (WES) is a tool that is increasingly used in the clinical setting for the diagnosis of genetic disorders. The diagnostic yield and resulting clinical actions of WES for patients who previously faced insurance coverage barriers have not yet been explored. a ) The histogram of diagnostic … COVID-19 is an emerging, rapidly evolving situation. Curr. -. Despite growing evidence of diagnostic yield and clinical utility of whole exome sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing. CeGaT Exome Xtra achieves the maximum diagnostic yield to solve patient cases. Pflugers Arch. DCM typically remains clinically silent until adulthood, yet symptomatic disease can develop in childhood. Objective:To characterize the diagnostic yield of combined tumor and germline WES for children with solid tumors. Importance:Whole-exome sequencing (WES) has the potential to reveal tumor and germline mutations of clinical relevance, but the diagnostic yield for pediatric patients with solid tumors is unknown. However, it is uncertain whether the use of Whole Exome Sequencing (WES) represents a more effective approach for diagnosis of cases with HCM and DCM. Snoeijen-Schouwenaars et. In 21/75 patients a disease-causing variant could be identified among them variants in known SRS genes ... WES approaches significantly increase the diagnostic yield … Article; Open Access; Published: 18 July 2018 Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. Rev. Am. As a result, many such patients remain on a diagnostic odyssey. To evaluate the diagnostic yield of prenatal whole exome sequencing (WES) for monogenic disorders in fetuses with structural malformations and normal results on cytogenetic testing, and to describe information on pathogenic variants that is provided by WES. Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum of heterogeneous neurological disorders. On applying whole-exome sequencing to the diagnoses of 250 unselected, consecutive patients, we observed a molecular diagnostic yield of 25%, which is higher than the positive rates of … -, Semsarian C, Ingles J, Maron MS, Maron BJ. 1. We performed a retrospective descriptive analysis of clinical WES outcomes for patients facing insurance coverage barriers prior to clinical WES and who subsequently enrolled in the Undiagnosed Diseases Network (UDN). BACKGROUND: Despite growing evidence of diagnostic yield and clinical utility of whole exome sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing. doi: 10.1038/nrcardio.2013.105. Diagnostic Exome Sequencing: Diagnostic Yield, Novel Gene Discovery, Expected and Unexpected Results BACKGROUND Over the last three years, the application of whole exome sequencing in a clinical diagnostic setting (DES) has transformed the diagnosis and … See this image and copyright information in PMC. See this image and copyright information in PMC. Targeted next generation sequencing of gene panels has become a popular tool for the genetic diagnosis of hypertrophic (HCM) and dilated cardiomyopathy (DCM). View 4 peer reviews of Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system,EVIDENCE on Publons COVID-19 : add an open review or score for a COVID-19 paper now to ensure the latest research gets the extra scrutiny it needs. However, it is uncertain whether the use of Whole Exome Sequencing (WES) represents a more effective approach for diagnosis of cases with HCM and DCM. iagnostic yield is steadily improving with the increasing use of whole-exome sequencing (WES) and whole-genome sequencing (WGS) to diagnose patients with a suspected genetic disorder1. In addition, an evaluation of the clinical characteristics that influence the likelihood of identifying a genetic cause and assessed the potential impact of the genetic diagnosis on … Although many genes have been associated to Mendelian diseases, the diagnostic yield of genome sequencing remains limited, varying from 8 to 70%2. Figure 2.. Insurance coverage barriers to clinical WES. Targeted next generation sequencing of gene panels has become a popular tool for the genetic diagnosis of hypertrophic (HCM) and dilated cardiomyopathy (DCM). Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping Christopher M. Watson1,2*, Laura A. Crinnion1,2, Ian R. Berry1, Sally M. Harrison2, Carolina Lascelles2, Agne Antanaviciute2, Ruth S. Charlton1, Angus Dobbie1, Ian M. Carr2 and David T. Bonthron1,2 Abstract (2019) assessed the diagnostic yield of whole exome sequencing (WES). Yet, many cases remain undiagnosed. Methods NIH One test for all: whole exome sequencing signicantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome Robert Meyer1, Matthias Begemann1, Christian Thomas Hübner1, Daniela Dey1, Alma Kuechler2, Results: 2020, Epub ahead of print. DNA from 330 probands (age range, 0‐68 years) with suspected genetic disorders were subjected to whole exome sequencing. Variant types reported for patients with non-diagnostic WES. Exome Sequencing Has Higher Diagnostic Yield Compared to Simulated Disease- Identification patients in the UDN undergoing whole exome sequencing (WES) previously facing insurance…, Figure 2.. Insurance coverage barriers to clinical…. With the implementation of next generation sequencing ... whole exome sequencing (WES), and trio-based WES. Identification of the molecular aetiology underlying patients with EOS could provide valuable information for both clinical management and prenatal screening. Asian J Androl. Ultrasound Obs. Epub 2016 Dec 21. 1–11, 10.1038/nrcardio.2016.25 (2016). 15/43 (35%) had a pathogenic variant reported, 19/43 (44%) of patients without a pathogenic or likely pathogenic variant reported at least one VUS in a gene related to the patient’s clinical phenotype, and 9/43 (21%) only had a research variant. In this study, we performed indirect comparisons of the coverage and diagnostic yield of WES on genes and variants related to HCM and DCM versus 4 different commercial gene panels using 40 HCM and DCM patients, assuming perfect coverage in those panels. Clipboard, Search History, and several other advanced features are temporarily unavailable. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies Publication Publication. Sawyer SL, Hartley T, Dyment DA et al. While whole-exome sequencing (WES) and whole-genome sequencing (WGS) are more commonly utilized as a tool for molecular diagnosis of affected pediatric and adult patients (Lee et al., 2014; Taylor et al., 2015; Sawyer et al., 2016), data regar… It combines the advantages of whole-exome sequencing (WES) and whole-genome sequencing (WGS), while avoiding their disadvantages.  |  Dillon O, et al.  |  2. We identified 6 pathogenic or likely pathogenic among 14 HCM patients (diagnostic yield 43%). 51. eCollection 2020 Dec. Curr Cardiol Rep. 2020 Oct 10;22(12):170. doi: 10.1007/s11886-020-01423-w. Yu BQ, Liu ZX, Gao YJ, Wang X, Mao JF, Nie M, Wu XY. targeted or whole exome. Chronic Dis Transl Med. main outcome measures: Diagnostic yield and acceptability of whole exome sequencing in patients with retinal disorders. Violin plots of mean WES coverage of the genes covered by four commercial panels. 3 Using whole-exome sequencing (WES) of the peripheral blood of the proband and other affected or unaffected relatives, we aimed at discovering genetic variant(s) that cause or contribute to their disease, therefore permitting resolution of the diagnostic odyssey and potentially leading to better patient management through … Kolokotronis K, Pluta N, Klopocki E, Kunstmann E, Messroghli D, Maack C, Tejman-Yarden S, Arad M, Rost S, Gerull B. J Clin Med. -, Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Refaat MM, Hotait M, London B. Genetics of Sudden Cardiac Death. Purpose EVIDENCE, an automated interpretation system, has been developed to facilitate the entire process of whole exome sequencing (WES) analyses. & Fonarow, G. C. Epidemiology and aetiology of heart failure. Gynecol. Figure 3.. Epub 2019 Oct 14. J. Moreover, the coverage of WES appeared inadequate for TNNI3 and PLN. Cardiol. The authors declare no competing interests. Epilepsy is a common pediatric neurological disorder associated with an increased risk of developmental delay, autism and psychiatric illness; and for which treatment is ineffective in 30–40% of patients. Variant types reported for patients…. Print 2020 Aug. Genet Med. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. Familial testing can increase diagnostic yield relative to proband-only exome sequencing. Clipboard, Search History, and several other advanced features are temporarily unavailable. Would you like email updates of new search results? 2021 Jan-Feb;23(1):69-73. doi: 10.4103/aja.aja_36_20. New perspectives on the prevalence of hypertrophic cardiomyopathy. Glob. This study investigated the diagnostic yield of EVIDENCE in patients suspected genetic disorders. A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C. Exome sequencing: value is in the eye of the beholder. 2013;8:355–382. DCM typically remains clinically silent until adulthood, yet symptomatic disease can develop in childhood. HHS Cardiomyopathies in China: A 2018-2019 state-of-the-art review. Sixty-six patients in the UDN faced insurance coverage barriers to WES at the time of enrollment (67% public payer, 26% private payer). The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in … 3 Using whole-exome sequencing (WES) of the peripheral blood of the proband and other affected or unaffected relatives, we aimed at discovering genetic variant(s) that cause or contribute to their disease, therefore permitting resolution of the diagnostic odyssey and potentially leading to better patient management through … Would you like email updates of new search results? Purpose EVIDENCE, an automated interpretation system, has been developed to facilitate the entire process of whole exome sequencing (WES) analyses. The overall diagnostic yield of exome sequencing in our cohort was 12.9%, with one or more ... we ev aluated the diagnostic yield of whole-exome sequencing (WES) in 93 patients with NMD with a previously unrevealing workup. Clinical WES results yielded a molecular diagnosis in 23 of 66 patients (35% [78% pediatric, 65% neurologic indication]). WGS – whole genome sequencing; WES – whole exome sequencing; UDN – Undiagnosed Diseases Network. (2019) assessed the diagnostic yield of whole exome sequencing (WES). Methods: COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: Prospective cohort study and systematic review. doi: 10.1101/mcs.a005165. Epub 2018 Oct 15. In a sample of patients with undiagnosed, suspected genetic conditions, a certain type of exome sequencing method was associated with a higher molecular diagnostic yield …  |  Cardiol.  |  Whole Exome Sequencing - Maximizing the diagnostic yield in various clinical indications 3 WES generates a lot of genetic information, which requires thorough … Forty-two of 66 (64%) received insurance denial for clinician-ordered WES, 19/66 (29%) had health insurance through a payer known not to cover WES, and 5/66 (8%) had previous payer denial of other genetic tests. Bhatia et al 2 further showed that using whole exome and whole genome sequencing (WGS) led to a diagnostic yield of 38% and 33%, respectively, in their Asian cohort. EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. Background Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. CODE Study Collaborators. This site needs JavaScript to work properly. Although many genes have been associated to Mendelian diseases, the diagnostic yield of genome sequencing remains limited, varying from 8 to 70%2. EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. Particularly in children with neuromuscular and skeletal dysplasia phenotypes, performing a ‘trio exome’ also contributed to a higher diagnostic yield. USA.gov. NLM Gynecol. Background: Here, we report the added diagnostic yield achieved for 101 WES cases re-analyzed 1 to 7years after initial analysis. DNA from 330 probands (age range, 0-68 years) with suspected genetic disorders were subjected to whole exome sequencing. Cardiol. WES was performed on 180 patients with early-onset epilepsy (≤5 years) of unknown cause. Acta Obstetricia et Gynecologica Scandinavica Rev. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE September 2020 Clinical Genetics 98(6) © 2019 National Society of Genetic Counselors. Timothy Shin … Snoeijen-Schouwenaars et. R.J.; et al. One test for all: whole exome sequencing signicantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome Robert Meyer1, Matthias Begemann1, Christian Thomas Hübner1, Daniela Dey1, Alma Kuechler2, 100% coverage within the genes covered by the panels is assumed. intervention: Participants were offered whole exome sequencing in addition to clinically available sequencing gene panels between July 2012 and January 2013 to determine the molecular etiology of their retinal dystrophy. Whole Exome Sequencing (WES) is a robust and one of the most comprehensive genetic tests for identifying the disease-causing changes in a large variety of genetic disorders. Our retrospective cohort study shows that prenatal whole exome sequencing, if offered by a clinical geneticist, in addition to chromosomal microarray, would notably increase the diagnostic yield in fetuses with ultrasound anomalies and would allow early diagnosis of a genetic disorder irrespective of the (incomplete) fetal phenotype. No other authors have relevant conflicts of interest to disclose. This is potentially secondary to several factors: (1) bias in case selection, as smaller series may have selected only cases with positive results 31; (2) the proportion of CHD associated with ECA, as the greater the proportion, the higher the overall yield; and (3) the sequencing approach used, i.e. EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. Venn diagram of the number of genes covered by 4 commercial panels in…, Violin plots of coverage among 17 “core” genes related to HCM and DCM.…, Violin plots of mean WES coverage of the genes covered by four commercial…, Histogram of WES coverage of 1552 potentially pathogenic cardiomyopathy related variants in Clinvar…, NLM 3 pathogenic or likely pathogenic were found among the 26 DCM patients (diagnostic yield 12%). However, it is uncertain whether the use of Whole Exome Sequencing (WES) represents a more effective approach for diagnosis of cases with HCM and DCM. Diagnostic yield in ID cohort (n = 95) by subgroup distribution through whole genome low-coverage sequencing and medical exome sequencing. Macke EL, Morales-Rosado JA, Gupta A, Schmitz CT, Kruisselbrink T, Lanpher B, Klee EW. Nat. Figure 3.. Targeted next generation sequencing of gene panels has become a popular tool for the genetic diagnosis of hypertrophic (HCM) and dilated cardiomyopathy (DCM). Nat. Clinical WES was completed as a result of participation in the UDN. Its clinical utility has been proven in epileptic encephalopathies and in mixed epilepsy cohorts (2–11); and in neurodevelopmental disorders (12–14) i… In this study, we performed indirect comparisons of the coverage and diagnostic yield of WES on genes and variants related to HCM and DCM versus 4 different commercial gene panels using 40 HCM and DCM patients, assuming perfect coverage in … COVID-19 is an emerging, rapidly evolving situation. Eur J Hum Genet. This site needs JavaScript to work properly. 2020, Epub ahead of print. In a sample of patients with undiagnosed, suspected genetic conditions, a certain type of exome sequencing method was associated with a higher molecular diagnostic yield … We conclude that most of the pathogenic variants for HCM and DCM can be found within a small number of genes which were covered by all the commercial gene panels, and the application of WES did not increase diagnostic yield. 2019 May;471(5):755-768. doi: 10.1007/s00424-018-2214-0. diagnostic yield; exome sequencing; insurance coverage; rare diseases; reimbursement; undiagnosed diseases; access; genetic testing; policy; public health. Please enable it to take advantage of the complete set of features! Diagnostic yield in ID cohort (n = 95) by subgroup distribution through whole genome low-coverage sequencing and medical exome sequencing. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. Please enable it to take advantage of the complete set of features! 01121616/Food and Health Bureau of the Government of the Hong Kong Special Administrative Region | Health and Medical Research Fund (HMRF)/International, 01221616/Food and Health Bureau of the Government of the Hong Kong Special Administrative Region | Health and Medical Research Fund (HMRF)/International, NCI CPTC Antibody Characterization Program. Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy Pamela A. Acta Obstetricia et Gynecologica Scandinavica The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: Endorsed by the world heart federation. -, Arbustini E, et al. Our retrospective cohort study shows that prenatal whole exome sequencing, if offered by a clinical geneticist, in addition to chromosomal microarray, would notably increase the diagnostic yield in fetuses with ultrasound anomalies and would allow early diagnosis of a genetic disorder irrespective of the (incomplete) fetal phenotype. Conclusions: WES increases the yield of molecular diagnosis over standard diagnostic testing.  |  doi: 10.1007/s11886-015-0606-8. In WES, protein-coding regions of all genes (approximately 20,000) of the human genome, known as the exome, are sequenced using next-generation sequencing technologies. In a sample of patients with undiagnosed, suspected genetic conditions, a certain type of exome sequencing method was associated with a higher molecular diagnostic yield … COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: Prospective cohort study and systematic review. Cold Spring Harb Mol Case Stud. These data demonstrate that a substantial proportion of patients who encountered insurance coverage barriers to WES had a clinically actionable molecular diagnosis, supporting the notion that WES has value as a covered benefit for patients who remain undiagnosed despite objective clinical findings. Matthew T. Wheeler has modest ownership interest in Personalis Inc. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder characterized by progressive heart failure. 37 Moreover, as shown in 30 cases, putatively pathogenic variants were … Recent years have seen the growing implementation of next-generation sequencing (NGS) techniques into widespread clinical use, revolutionizing the diagnostic odyssey for many families with monogenic disorders (Yang et al., 2013; Stranneheim and Wedell, 2016). Histogram of WES coverage of 1552 potentially pathogenic cardiomyopathy related variants in Clinvar among 40 HCM and DCM patients. PMID:26283276 3. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error, Sixty-six of 165 (40%) patients undergoing WES had no documented insurance coverage for WES prior to the UDN evaluation. As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. 2020 Jul 9;9(7):2168. doi: 10.3390/jcm9072168. Exome sequencing is currently recommended as a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Venn diagram of the number of genes covered by 4 commercial panels in relation to the exome. Increasing the diagnostic yield of exome sequencing by copy number variant analysis. doi: 10.1016/j.gheart.2013.11.001. Long 1, … National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. However, it is uncertain whether the use of Whole Exome Sequencing (WES) represents a more effective approach for diagnosis of cases with HCM and DCM. 2016 Mar; 89: 275–284. The plot shows the distribution of coverage over the genes. Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing. The coverage was similar to that of four existing commercial gene panels due to the clustering of mutation within MYH7, MYBPC3, TPM1, TNT2, and TTN. Here, we aim to examine the impact on diagnosis, treatment and cost with early use of targeted WES in early-onset epilepsy. High-throughput sequencing (HTS) has become a widespread diagnostic tool in various genetic conditions, including epilepsy (1), vastly improving molecular diagnosis. 2020 Feb;22(2):280-282. doi: 10.1038/s41436-019-0674-z. However, it is uncertain whether the use of Whole Exome Sequencing (WES) represents a more effective approach for diagnosis of cases with HCM and DCM. Rep. 2015;17:1–9. RESEARCH ARTICLE Open Access Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping Christopher M. Watson1,2*, Laura A. Crinnion1,2, Ian R. Berry1, Sally M. Harrison2, Carolina Lascelles2, Agne Antanaviciute2, Ruth S. Charlton1, Angus Dobbie1, Ian M. Carr2 and David T. Bonthron1,2 Ziaeian, B. Diagnostic yield in these studies, defined as the proportion of tested patients with . Our study sought to answer whether genome-scale sequencing could provide or … The plot shows the distribution of coverage among 40 HCM and DCM patients. Clin Genet. NIH Violin plots of coverage among 17 “core” genes related to HCM and DCM. Methods DNA from 330 probands (age range, 0–68 years) with suspected genetic disorders were subjected to WES. Background: Despite growing evidence of diagnostic yield and clinical utility of whole exome sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing. Identification patients in the UDN…, Figure 1.. Whole Exome Sequencing - Maximizing the diagnostic yield in various clinical indications 3 WES generates a lot of genetic information, which requires thorough and high-quality procedures in … • As technology and bioinformatic pipelines improve and new disease genes are published, it is essential to continuously re-evaluate previously generated This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. doi: 10.1016/j.jacc.2015.01.019. Keywords: Whole exome sequencing: final evidence report Page ES-2 Limitations: Most of the evidence is from uncontrolled, retrospective, observational studies. This study investigated the diagnostic yield of EVIDENCE in patients suspected genetic disorders. Journal of Cardiovascular Development and Disease Article Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy Pamela A. It combines the advantages of whole-exome sequencing (WES) and whole-genome sequencing (WGS), while avoiding their disadvantages. 2015;65:1249–1254. Conclusions: View 4 peer reviews of Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system,EVIDENCE on Publons COVID-19 : add an open review or score for a COVID-19 paper now to ensure the latest research gets the extra scrutiny it needs. Methods DNA from 330 probands (age range, 0–68 years) with suspected genetic disorders were subjected to WES. 2013;10:531–547. Using WES read depth data to predict copy number variation (CNV) could extend the diagnostic utility of this previously underutilized data by providing clinically important information such as previously unsuspected deletions or duplications. intervention: Participants were offered whole exome sequencing in addition to clinically available sequencing gene panels between July 2012 and January 2013 to determine the molecular etiology of their retinal dystrophy. Coll. Importance:Whole-exome sequencing (WES) has the potential to reveal tumor and germline mutations of clinical relevance, but the diagnostic yield for pediatric patients with solid tumors is unknown. main outcome measures: Diagnostic yield and acceptability of whole exome sequencing in patients with retinal disorders. U01 HG007690/HG/NHGRI NIH HHS/United States, U01 HG007708/HG/NHGRI NIH HHS/United States, U01 HG007674/HG/NHGRI NIH HHS/United States, U01 HG007672/HG/NHGRI NIH HHS/United States, U01 HG007703/HG/NHGRI NIH HHS/United States, U01 HG007942/HG/NHGRI NIH HHS/United States, U01 HG007709/HG/NHGRI NIH HHS/United States, U01 HG010218/HG/NHGRI NIH HHS/United States, U01 HG007530/HG/NHGRI NIH HHS/United States, F32 HG000130/HG/NHGRI NIH HHS/United States. Semsarian C, Ingles J, Maron MS, Maron MS, MS. Of Cardiovascular Development and disease Article diagnostic yield of EVIDENCE in patients with early-onset epilepsy ( years! Search History, and several other advanced features are temporarily unavailable shows the distribution of coverage the. While avoiding their disadvantages the entire process of whole exome sequencing ( CODE ) study Prospective! Jul 9 ; 9 ( 7 ):2168. doi: 10.1007/s00424-018-2214-0 a Chinese 46 XY! 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