exome

Summary

Summary: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.

Top Publications

  1. Heidary M, Auer M, Ulz P, Heitzer E, Petru E, Gasch C, et al. The dynamic range of circulating tumor DNA in metastatic breast cancer. Breast Cancer Res. 2014;16:421 pubmed publisher
    ..Furthermore, in an index patient we conducted whole-genome, exome, or targeted deep sequencing of the primary tumor, metastases, and circulating tumor cells (CTCs)...
  2. Klein C, Wu Y, Duan X, Middha S, Dawson B, Kocher J, et al. Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing. J Neurol Neurosurg Psychiatry. 2013;84:943-4 pubmed publisher
  3. . Points to consider for informed consent for genome/exome sequencing. Genet Med. 2013;15:748-9 pubmed publisher
  4. . Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. Nat Genet. 2016;48:867-76 pubmed publisher
  5. Zrhidri A, Jaouad I, Lyahyai J, Raymond L, Egéa G, Taoudi M, et al. Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature. Gene. 2017;628:190-193 pubmed publisher
    ..The patient had been referred to a medical genetics outpatient clinic for dysmorphic facial features. Whole Exome Sequencing (WES) was performed in the patient and her parents, in addition to Sanger sequencing that was carried ..
  6. Seo H, Park Y, Min B, Seo M, Kim J. Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions. PLoS ONE. 2017;12:e0181304 pubmed publisher
    ..of read-level alignments for the 675 ultrarare variants reported by the Ion Proton sequencer from 27 whole-exome sequencing data but that are not present in either the 1000 Genomes Project and the Exome Aggregation Consortium...
  7. Gayarre J, Martín Gimeno P, Osorio A, Paumard B, Barroso A, Fernandez V, et al. Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes. Br J Cancer. 2017;117:1048-1062 pubmed publisher
  8. Cui X, Meng J, Rao M, Chen Y, Huang Y. HEPeak: an HMM-based exome peak-finding package for RNA epigenome sequencing data. BMC Genomics. 2015;16 Suppl 4:S2 pubmed publisher
    ..We developed HEP, a Hidden Markov Model (HMM)-based Exome Peak-finding algorithm for predicting transcriptome methylation sites using MeRIP-seq data...
  9. Chalmers Z, Connelly C, Fabrizio D, Gay L, Ali S, Ennis R, et al. Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med. 2017;9:34 pubmed publisher
    ..this study, we compare TMB measured by a targeted comprehensive genomic profiling (CGP) assay to TMB measured by exome sequencing and simulate the expected variance in TMB when sequencing less than the whole exome...

More Information

Publications106 found, 100 shown here

  1. Jin X, Wang J, Gao K, Zhang P, Yao L, Tang Y, et al. Dysregulation of INF2-mediated mitochondrial fission in SPOP-mutated prostate cancer. PLoS Genet. 2017;13:e1006748 pubmed publisher
    Next-generation sequencing of the exome and genome of prostate cancers has identified numerous genetic alternations...
  2. Lake N, Webb B, Stroud D, Richman T, Ruzzenente B, Compton A, et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017;101:239-254 pubmed publisher
    ..Whole-exome sequencing was used to independently identify all variants...
  3. Jin S, Homsy J, Zaidi S, Lu Q, Morton S, Depalma S, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017;49:1593-1601 pubmed publisher
    Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1...
  4. Diroma M, Calabrese C, Simone D, Santorsola M, Calabrese F, Gasparre G, et al. Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data. BMC Genomics. 2014;15 Suppl 3:S2 pubmed publisher
    Whole Exome Sequencing (WES) is one of the most used and cost-effective next generation technologies that allows sequencing of all nuclear exons. Off-target regions may be captured if they present high sequence similarity with baits...
  5. Lyu Y, Huang J, Zhang K, Liu G, Gao M, Gai Z, et al. [Diagnosis of a case with oculocutaneous albinism type ? with next generation exome capture sequencing]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:73-77 pubmed publisher
    ..The DNA of the patient and his parents was extracted and sequenced by next generation exome capture sequencing. The nature and impact of detected mutation were predicted and validated...
  6. Kim B, Huber C, Lohmueller K. Inference of the Distribution of Selection Coefficients for New Nonsynonymous Mutations Using Large Samples. Genetics. 2017;206:345-361 pubmed publisher
    ..We apply our approach to the frequency spectrum of 1300 Europeans from the Exome Sequencing Project ESP6400 data set, 1298 Danes from the LuCamp data set, and 432 Europeans from the 1000 Genomes ..
  7. Liu X, Yagi H, Saeed S, Bais A, Gabriel G, Chen Z, et al. The complex genetics of hypoplastic left heart syndrome. Nat Genet. 2017;49:1152-1159 pubmed publisher
    ..These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD. ..
  8. Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, et al. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017;136:921-939 pubmed publisher
    ..Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests...
  9. Leung M, Wang Y, Waters J, Navin N. SNES: single nucleus exome sequencing. Genome Biol. 2015;16:55 pubmed publisher
    ..SNES that combines flow-sorting of single G1/0 or G2/M nuclei, time-limited multiple-displacement-amplification, exome capture, and next-generation sequencing to generate high coverage (96%) data from single human cells...
  10. Eom S, Hwang M, Lim J, Choi B, Kwon H, Park J, et al. Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population. Environ Health. 2017;16:11 pubmed publisher
    ..We conducted exome-wide association screening using Illumina Human Exome-12v1...
  11. Forouzanfar N, Baranova A, Milanizadeh S, Heravi Moussavi A, Jebelli A, Abbaszadegan M. Novel candidate genes may be possible predisposing factors revealed by whole exome sequencing in familial esophageal squamous cell carcinoma. Tumour Biol. 2017;39:1010428317699115 pubmed publisher
    ..A more advanced method to identify new molecular biomarkers predicting disease prognosis can be whole exome sequencing...
  12. Ryu N, Lee S, Park H, Lee B, Kwon T, Bok J, et al. Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing. Gene. 2017;627:233-238 pubmed publisher
    ..To identify a causative mutation of HL in this family, we performed whole-exome sequencing of 4 family members, 3 affected and an unaffected. As the result, A novel splicing mutation, c...
  13. Barrett M, Deiotte R, Lenkiewicz E, Malasi S, Holley T, Evers L, et al. Clinical study of genomic drivers in pancreatic ductal adenocarcinoma. Br J Cancer. 2017;117:572-582 pubmed publisher
    ..Tumour nuclei were flow sorted prior to whole genome copy number variant (CNV) analysis. Targeted or whole exome sequencing was performed on most samples...
  14. Sutton A, Robin N. Clinical application of whole exome sequencing: not (yet) ready for primetime. Curr Opin Pediatr. 2012;24:663-4 pubmed publisher
  15. Gao Q, Sun W, You X, Froehler S, Chen W. A systematic evaluation of hybridization-based mouse exome capture system. BMC Genomics. 2013;14:492 pubmed publisher
    b>Exome sequencing is increasingly used to search for phenotypically-relevant sequence variants in the mouse genome...
  16. Braun D, Schueler M, Halbritter J, Gee H, Porath J, Lawson J, et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int. 2016;89:468-475 pubmed publisher
    ..Here, we performed whole exome sequencing in 79 consanguineous or familial cases of suspected nephronophthisis in order to determine the ..
  17. Souma T, Tompson S, Thomson B, Siggs O, Kizhatil K, Yamaguchi S, et al. Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest. 2016;126:2575-87 pubmed publisher
    ..Collectively, these results identify TEK mutations in patients with PCG that likely underlie disease and are transmitted in an autosomal dominant pattern with variable expressivity. ..
  18. Pagnamenta A, Murakami Y, Taylor J, Anzilotti C, Howard M, Miller V, et al. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. Eur J Hum Genet. 2017;25:669-679 pubmed publisher
    ..To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study...
  19. Geisheker M, Heymann G, Wang T, Coe B, Turner T, Stessman H, et al. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci. 2017;20:1043-1051 pubmed publisher
    ..Overall, we find significant clustering of de novo mutations in 200 genes, highlighting specific functional domains and synaptic candidate genes important in NDD pathology. ..
  20. Panoutsopoulou K, Tachmazidou I, Zeggini E. In search of low-frequency and rare variants affecting complex traits. Hum Mol Genet. 2013;22:R16-21 pubmed publisher
    ..genotyping arrays and next-generation sequencing technologies at the whole-genome sequencing (WGS) and whole-exome scales (WES) are increasingly employed to access sequence variation across the full minor allele frequency (MAF) ..
  21. Namkoong H, Hasegawa N, Betsuyaku T. Susceptibility genes for nontuberculous mycobacterial disease. Nihon Rinsho Meneki Gakkai Kaishi. 2017;40:60-67 pubmed publisher
    ..The emergence of next generation sequencing enables genome-wide analysis, and further studies on the susceptibility genes for pulmonary NTM disease are expected in the future. ..
  22. Simino J, Wang Z, Bressler J, Chouraki V, Yang Q, Younkin S, et al. Whole exome sequence-based association analyses of plasma amyloid-? in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study. PLoS ONE. 2017;12:e0180046 pubmed publisher
    We performed single-variant and gene-based association analyses of plasma amyloid-? (a?) concentrations using whole exome sequence from 1,414 African and European Americans...
  23. Archer N, Pérez Andreu V, Stoltze U, Scheurer M, Wilkinson A, Lin T, et al. Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility. PLoS ONE. 2017;12:e0180488 pubmed publisher
    We conducted an exome-wide association study of childhood acute lymphoblastic leukemia (ALL) among Hispanics to confirm and identify novel variants associated with disease risk in this population...
  24. Teater M, Melnick A. Untangling the Web of Lymphoma Somatic Mutations. Cell. 2017;171:270-272 pubmed publisher
    ..report integrative genetic characterization of diffuse large B cell lymphomas (DLBCL), including large-scale exome capture, transcriptomes, CRISPR screens, and integrative clinical biomarker studies...
  25. Pollak A, Lechowicz U, Murcia Pieńkowski V, Stawinski P, Kosińska J, Skarzynski H, et al. Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss. BMC Med Genet. 2017;18:142 pubmed publisher
    Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including nonsyndromic hearing impairment...
  26. Beaulieu C, Huang L, Innes A, Akimenko M, Puffenberger E, Schwartz C, et al. Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis. 2013;8:62 pubmed publisher
    ..Candidate gene sequencing followed by exome sequencing identified a homozygous missense mutation p.Gly46Arg, in THOC6...
  27. Seaby E, Pengelly R, Ennis S. Exome sequencing explained: a practical guide to its clinical application. Brief Funct Genomics. 2016;15:374-84 pubmed publisher
    Next-generation sequencing has catapulted healthcare into a revolutionary genomics era. One such technology, whole-exome sequencing, which targets the protein-coding regions of the genome, has proven success in identifying new causal ..
  28. Kinnear C, Glanzmann B, Banda E, Schlechter N, Durrheim G, Neethling A, et al. Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. BMC Med Genet. 2017;18:26 pubmed publisher
    ..The index patient died of fulminant cytomegalovirus pneumonitis at 3 months of age. Whole exome sequencing (WES) was performed on a premortem DNA sample from the index case...
  29. Nibbeling E, Duarri A, Verschuuren Bemelmans C, Fokkens M, Karjalainen J, Smeets C, et al. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain. 2017;140:2860-2878 pubmed publisher
    ..five novel spinocerebellar ataxia genes, FAT2, PLD3, KIF26B, EP300, and FAT1, identified through a combination of exome sequencing in genetically undiagnosed families and targeted resequencing of exome candidates in a cohort of ..
  30. Weatheritt R, Babu M. Evolution. The hidden codes that shape protein evolution. Science. 2013;342:1325-6 pubmed publisher
  31. Lelieveld S, Wiel L, Venselaar H, Pfundt R, Vriend G, Veltman J, et al. Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. Am J Hum Genet. 2017;101:478-484 pubmed publisher
    ..We apply our method to a dataset of 4,061 de novo missense mutations from published exome studies of trios with intellectual disability and developmental disorders (ID/DD) and successfully identify 15 ..
  32. Farber C, Reich A, Barnes A, Becerra P, Rauch F, Cabral W, et al. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. J Bone Miner Res. 2014;29:1402-11 pubmed
    ..We performed exome sequencing on the proband, both parents, and an unaffected sibling...
  33. Helm B, Langley K, Spangler B, Schrier Vergano S. Military Health Care Dilemmas and Genetic Discrimination: A Family's Experience with Whole Exome Sequencing. Narrat Inq Bioeth. 2015;5:179-86 pubmed publisher
    Whole-exome sequencing (WES) has increased our ability to analyze large parts of the human genome, bringing with it a plethora of ethical, legal, and social implications...
  34. Levinsohn J, Tian L, Boyden L, McNiff J, Narayan D, Loring E, et al. Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. J Invest Dermatol. 2013;133:827-830 pubmed publisher
  35. Van De Weghe J, Rusterholz T, Latour B, Grout M, Aldinger K, Shaheen R, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017;101:23-36 pubmed publisher
  36. Leslie E, Marazita M. Genetics of cleft lip and cleft palate. Am J Med Genet C Semin Med Genet. 2013;163C:246-58 pubmed publisher
    ..been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies...
  37. Oz Levi D, Weiss B, Lahad A, Greenberger S, Pode Shakked B, Somech R, et al. Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome. Clin Genet. 2015;87:602-3 pubmed publisher
  38. Low K, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, Fitzpatrick D, et al. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. Eur J Hum Genet. 2017;25:552-559 pubmed publisher
    ..We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
  39. Rotwein P. Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms. J Biol Chem. 2017;292:9252-9261 pubmed publisher
    ..Toward this end, the availability of DNA sequence data from 60,706 people through the Exome Aggregation Consortium has prompted the analyses presented here...
  40. Shaheen R, Sebai M, Patel N, Ewida N, Kurdi W, Altweijri I, et al. The genetic landscape of familial congenital hydrocephalus. Ann Neurol. 2017;81:890-897 pubmed publisher
    ..b>Exome sequencing combined, where applicable, with positional mapping...
  41. Zhang Y, Li S, Abyzov A, Gerstein M. Landscape and variation of novel retroduplications in 26 human populations. PLoS Comput Biol. 2017;13:e1005567 pubmed publisher
    ..We developed an integrated approach to discover novel retroduplications combining high-coverage exome and low-coverage whole-genome sequencing data, utilizing information from both exon-exon junctions and discordant ..
  42. Sha Y, Sha Y, Mei L, Huang X, Wang X, Lin S, et al. Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease. Gene. 2017;634:1-4 pubmed publisher
    ..Here, we report a pedigree containing nine patients with autosomal dominant PKD (ADPKD). Using targeted exome sequencing of PKD1 and PKD2 genes, we identified a novel heterozygous frameshift mutation c.3976_3977insCT (p...
  43. Poduri A, Heinzen E, Chitsazzadeh V, Lasorsa F, Elhosary P, LaCoursiere C, et al. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013;74:873-82 pubmed publisher
    ..We performed whole exome sequencing and analyzed homozygous variants in regions of linkage to identify a candidate gene and performed ..
  44. Kadalayil L, Rafiq S, Rose Zerilli M, Pengelly R, Parker H, Oscier D, et al. Exome sequence read depth methods for identifying copy number changes. Brief Bioinform. 2015;16:380-92 pubmed publisher
    ..Many disease causal CNVs span or are found in genome coding regions (exons), which makes CNV detection using whole exome sequencing (WES) data attractive...
  45. Berg J. Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value. JAMA. 2014;312:1865-7 pubmed publisher
  46. Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, et al. Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia. Am J Med Genet A. 2016;170:795-8 pubmed publisher
  47. Gerhard G, Paynton B, Popoff S. Integrating Cadaver Exome Sequencing Into a First-Year Medical Student Curriculum. JAMA. 2016;315:555-6 pubmed publisher
  48. Crawford J, Alves J, Palmer W, Day J, Sylla M, Ramasamy R, et al. Population genomics reveals that an anthropophilic population of Aedes aegypti mosquitoes in West Africa recently gave rise to American and Asian populations of this major disease vector. BMC Biol. 2017;15:16 pubmed publisher
    ..As the two subspecies differ in their ability to vector disease, their existence side by side in West Africa may have important implications for disease transmission. ..
  49. Wang C, Yuan H. Application and progress of high-throughput sequencing technologies in the research of hereditary hearing loss. Yi Chuan. 2017;39:208-219 pubmed publisher
    ..In the genomic era, high-throughput sequencing technologies, represented by whole genome sequencing (WGS), whole exome sequencing (WES) or target region sequencing, have been widely used in the studies of hereditary HL...
  50. Ravindran E, Hu H, Yuzwa S, Hernández Miranda L, Kraemer N, Ninnemann O, et al. Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genet. 2017;13:e1006746 pubmed publisher
    ..We identified, by means of whole exome sequencing, a homozygous frameshift mutation in the ARHGEF2 as a cause of intellectual disability, a midbrain-..
  51. Marquet S, Bucheton B, Reymond C, Argiro L, El Safi S, Kheir M, et al. Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan. J Infect Dis. 2017;216:22-28 pubmed publisher
    ..7% of cured patients displayed relapses, with familial clustering in half the cases. We performed whole-exome sequencing on 10 relapsing individuals and 11 controls from 5 nuclear families...
  52. Rheinbay E, Parasuraman P, Grimsby J, Tiao G, Engreitz J, Kim J, et al. Recurrent and functional regulatory mutations in breast cancer. Nature. 2017;547:55-60 pubmed publisher
    ..Power analyses indicate that more such regions remain to be discovered through deep sequencing of adequately sized cohorts of patients. ..
  53. Sudo T, Okada Y, Ozaki K, Urayama K, Kanai M, Kobayashi H, et al. Association of NOD2 Mutations with Aggressive Periodontitis. J Dent Res. 2017;96:1100-1105 pubmed publisher
    ..genotyping for identity-by-descent mapping and identified 32 distinct candidate loci, followed by whole exome sequencing with 2 pedigrees of AgP consisting of 3 cases and 1 control in 1 family and 2 sibling cases in the ..
  54. Myers C, STONG N, Mountier E, Helbig K, Freytag S, Sullivan J, et al. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017;101:516-524 pubmed publisher
    b>Exome sequencing has readily enabled the discovery of the genetic mutations responsible for a wide range of diseases...
  55. Saito M, Fujiwara Y, Asao T, Honda T, Shimada Y, Kanai Y, et al. The genomic and epigenomic landscape in thymic carcinoma. Carcinogenesis. 2017;38:1084-1091 pubmed publisher
    ..Here, we characterized both genomic and epigenomic aberrations by whole exome sequencing, RNA sequencing, methylation array and copy number analyses in TCs from Asian patients and compared ..
  56. Hillman S, Willams D, Carss K, McMullan D, Hurles M, Kilby M. Prenatal exome sequencing for fetuses with structural abnormalities: the next step. Ultrasound Obstet Gynecol. 2015;45:4-9 pubmed publisher
  57. Kosmicki J, Samocha K, Howrigan D, Sanders S, Slowikowski K, Lek M, et al. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017;49:504-510 pubmed publisher
    ..developmental delay, we found that ?1/3 of de novo variants are independently present as standing variation in the Exome Aggregation Consortium's cohort of 60,706 adults, and these de novo variants do not contribute to ..
  58. Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Mirabella M, et al. Association study reveals novel risk loci for sporadic inclusion body myositis. Eur J Neurol. 2017;24:572-577 pubmed publisher
    ..An association based case-control approach was utilized on whole exome sequencing data of 30 Finnish sIBM patients and a control cohort (n = 193)...
  59. Bertoldi L, Forcato C, Vitulo N, Birolo G, de Pascale F, Feltrin E, et al. QueryOR: a comprehensive web platform for genetic variant analysis and prioritization. BMC Bioinformatics. 2017;18:225 pubmed publisher
    Whole genome and exome sequencing are contributing to the extraordinary progress in the study of human genetic variants. In this fast developing field, appropriate and easily accessible tools are required to facilitate data analysis...
  60. Heidet L, Moriniere V, Henry C, De Tomasi L, Reilly M, Humbert C, et al. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2017;28:2901-2914 pubmed publisher
    ..Here, we report the targeted exome sequencing of 330 genes, including genes known to be involved in CAKUT and candidate genes, in a cohort of 204 ..
  61. Le Morvan M, Zinovyev A, Vert J. NetNorM: Capturing cancer-relevant information in somatic exome mutation data with gene networks for cancer stratification and prognosis. PLoS Comput Biol. 2017;13:e1005573 pubmed publisher
    ..Here we propose a method, NetNorM, to represent whole-exome somatic mutation data in a form that enhances cancer-relevant information using a gene network as background ..
  62. Li W, Li Q, Xu S, Wei F, Ye Z, Cheng J, et al. Exome sequencing identifies an MLL3 gene germ line mutation in a pedigree of colorectal cancer and acute myeloid leukemia. Blood. 2013;121:1478-9 pubmed publisher
  63. White N, Cabanski C, Silva Fisher J, Dang H, Govindan R, Maher C. Transcriptome sequencing reveals altered long intergenic non-coding RNAs in lung cancer. Genome Biol. 2014;15:429 pubmed publisher
    ..Integration of exome sequencing data reveals that expression levels of many LCALs have significant associations with the mutational ..
  64. Merdad A, Gari M, Hussein S, Al Khayat S, Tashkandi H, Al Maghrabi J, et al. Characterization of familial breast cancer in Saudi Arabia. BMC Genomics. 2015;16 Suppl 1:S3 pubmed publisher
    ..The advent of whole-exome sequencing is offering a unique opportunity to identify the breast cancer susceptibility genes in each family of ..
  65. Ilyas A, Ahmad S, Faheem M, Naseer M, Kumosani T, Al Qahtani M, et al. Next generation sequencing of acute myeloid leukemia: influencing prognosis. BMC Genomics. 2015;16 Suppl 1:S5 pubmed publisher
    ..The extended spectrum of abnormalities discovered by NGS is currently under extensive validation for their prognostic and therapeutic values. In this review we highlight the recent advances in the understanding of AML in the NGS era. ..
  66. Zhou T, Souzeau E, Siggs O, Landers J, Mills R, Goldberg I, et al. Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma. Invest Ophthalmol Vis Sci. 2017;58:1537-1544 pubmed publisher
    ..Utilizing whole-exome sequencing, we examined the disease burden accounted for by these known Mendelian glaucoma genes in a cohort of ..
  67. Jaiswal S, Natarajan P, Silver A, Gibson C, Bick A, Shvartz E, et al. Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease. N Engl J Med. 2017;377:111-121 pubmed publisher
    ..We used whole-exome sequencing to detect the presence of CHIP in peripheral-blood cells and associated such presence with coronary ..
  68. Zlobin A, Sharapov S, Guryev V, Bevova M, Tsepilov Y, Sivtseva T, et al. Population specific analysis of Yakut exomes. Dokl Biochem Biophys. 2017;474:213-216 pubmed publisher
    We studied the genetic diversity of the Yakut population using exome sequencing...
  69. van El C, Cornel M, Borry P, Hastings R, Fellmann F, Hodgson S, et al. Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013;21:580-4 pubmed publisher
  70. Speicher M, Pantel K. Tumor signatures in the blood. Nat Biotechnol. 2014;32:441-3 pubmed publisher
  71. Thangam M, Gopal R. CRCDA--Comprehensive resources for cancer NGS data analysis. Database (Oxford). 2015;2015: pubmed publisher
    ..which may help researchers to overcome challenges in selecting and configuring individual tools for analysing exome, whole genome and transcriptome data...
  72. De Summa S, Malerba G, Pinto R, Mori A, Mijatovic V, Tommasi S. GATK hard filtering: tunable parameters to improve variant calling for next generation sequencing targeted gene panel data. BMC Bioinformatics. 2017;18:119 pubmed publisher
    ..Our results showed that GATK hard filtering parameter values can be tailored through a simulation study based-on the DNA region of interest to ameliorate the accuracy of the variant calling. ..
  73. Kloss B, Tompson S, Whisenhunt K, Quow K, Huang S, Pavelec D, et al. Exome Sequence Analysis of 14 Families With High Myopia. Invest Ophthalmol Vis Sci. 2017;58:1982-1990 pubmed publisher
    To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. Select individuals from 14 large Caucasian families with high myopia were exome sequenced...
  74. Fedida J, Fressart V, Charron P, Surget E, Hery T, Richard P, et al. Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia. PLoS ONE. 2017;12:e0181840 pubmed publisher
    ..The aim of this study was to assess the diagnostic accuracy of whole exome sequencing (WES) in ARVC/D with negative genetic testing...
  75. De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, et al. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. Am J Hum Genet. 2017;101:803-814 pubmed publisher
    ..Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 ..
  76. Khandelwal K, van Bokhoven H, Roscioli T, Carels C, Zhou H. Genomic approaches for studying craniofacial disorders. Am J Med Genet C Semin Med Genet. 2013;163C:218-31 pubmed publisher
    ..studies including analyses of copy number variation (CNV), genome-wide association and linkage studies, and exome sequencing (ES) provide more accurate information for unraveling the genetic causes of diseases...
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    The genetic contribution to clinical outcomes for multiple sclerosis (MS) has yet to be defined. We performed exome sequencing analysis in 100 MS patients presenting opposite extremes of clinical phenotype (discovery cohort), and ..
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    ..Genetic linkage analysis was performed on 12 family members (Infinium HumanOmni2.5-8 BeadChip). Whole exome sequencing analysis (Illumina HiSeq) was performed on one affected individual...
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    ..b>Exome sequencing revealed somatic mutations in 19 of 24 patients (79%)...