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Showing 1 to 12 of 18 entries
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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics

Alaimo JT, Glinton KE, Liu N, Xiao J, Yang Y, Reid Sutton V, Elsea SH.
PMID: 32439973
Genet Med. 2020 Sep;22(9):1560-1566. doi: 10.1038/s41436-020-0827-0. Epub 2020 May 22.

PURPOSE: A primary barrier to improving exome sequencing diagnostic rates is the interpretation of variants of uncertain clinical significance. We aimed to determine the contribution of integrated untargeted metabolomics in the analysis of exome sequencing data by retrospective analysis...

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Alaimo JT, Glinton KE, Liu N, et al. Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis. Genet Med. 2020;22(9):1560-1566doi: 10.1038/s41436-020-0827-0.
Alaimo, J. T., Glinton, K. E., Liu, N., Xiao, J., Yang, Y., Reid Sutton, V., & Elsea, S. H. (2020). Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis. Genetics in medicine : official journal of the American College of Medical Genetics, 22(9), 1560-1566. https://doi.org/10.1038/s41436-020-0827-0
Alaimo, Joseph T, et al. "Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis." Genetics in medicine : official journal of the American College of Medical Genetics vol. 22,9 (2020): 1560-1566. doi: https://doi.org/10.1038/s41436-020-0827-0
Alaimo JT, Glinton KE, Liu N, Xiao J, Yang Y, Reid Sutton V, Elsea SH. Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis. Genet Med. 2020 Sep;22(9):1560-1566. doi: 10.1038/s41436-020-0827-0. Epub 2020 May 22. PMID: 32439973; PMCID: PMC7483344.
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Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Scientific reports

Alonso-Gonzalez A, Calaza M, Amigo J, González-Peñas J, Martínez-Regueiro R, Fernández-Prieto M, Parellada M, Arango C, Rodriguez-Fontenla C, Carracedo A.
PMID: 33431980
Sci Rep. 2021 Jan 11;11(1):319. doi: 10.1038/s41598-020-79412-w.

De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. Our aim was to detect DNMs (germinal and PZMs)...

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Alonso-Gonzalez A, Calaza M, Amigo J, et al. Exploring the biological role of postzygotic and germinal de novo mutations in ASD. Sci Rep. 2021;11(1):319doi: 10.1038/s41598-020-79412-w.
Alonso-Gonzalez, A., Calaza, M., Amigo, J., González-Peñas, J., Martínez-Regueiro, R., Fernández-Prieto, M., Parellada, M., Arango, C., Rodriguez-Fontenla, C., & Carracedo, A. (2021). Exploring the biological role of postzygotic and germinal de novo mutations in ASD. Scientific reports, 11(1), 319. https://doi.org/10.1038/s41598-020-79412-w
Alonso-Gonzalez, A, et al. "Exploring the biological role of postzygotic and germinal de novo mutations in ASD." Scientific reports vol. 11,1 (2021): 319. doi: https://doi.org/10.1038/s41598-020-79412-w
Alonso-Gonzalez A, Calaza M, Amigo J, González-Peñas J, Martínez-Regueiro R, Fernández-Prieto M, Parellada M, Arango C, Rodriguez-Fontenla C, Carracedo A. Exploring the biological role of postzygotic and germinal de novo mutations in ASD. Sci Rep. 2021 Jan 11;11(1):319. doi: 10.1038/s41598-020-79412-w. PMID: 33431980; PMCID: PMC7801448.
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Precision oncology in the age of integrative genomics.

Nature biotechnology

Kumar-Sinha C, Chinnaiyan AM.
PMID: 29319699
Nat Biotechnol. 2018 Jan 10;36(1):46-60. doi: 10.1038/nbt.4017.

Precision oncology applies genomic and other molecular analyses of tumor biopsies to improve the diagnosis and treatment of cancers. In addition to identifying therapeutic options, precision oncology tracks the response of a tumor to an intervention at the molecular...

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Kumar-Sinha C, Chinnaiyan AM. Precision oncology in the age of integrative genomics. Nat Biotechnol. 2018;36(1):46-60doi: 10.1038/nbt.4017.
Kumar-Sinha, C., & Chinnaiyan, A. M. (2018). Precision oncology in the age of integrative genomics. Nature biotechnology, 36(1), 46-60. https://doi.org/10.1038/nbt.4017
Kumar-Sinha, Chandan, and Chinnaiyan, Arul M. "Precision oncology in the age of integrative genomics." Nature biotechnology vol. 36,1 (2018): 46-60. doi: https://doi.org/10.1038/nbt.4017
Kumar-Sinha C, Chinnaiyan AM. Precision oncology in the age of integrative genomics. Nat Biotechnol. 2018 Jan 10;36(1):46-60. doi: 10.1038/nbt.4017. PMID: 29319699; PMCID: PMC6364676.
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Reporting of race in genome and exome sequencing studies of cancer: a scoping review of the literature.

Genetics in medicine : official journal of the American College of Medical Genetics

Nugent A, Conatser KR, Turner LL, Nugent JT, Sarino EMB, Ricks-Santi LJ.
PMID: 31160752
Genet Med. 2019 Dec;21(12):2676-2680. doi: 10.1038/s41436-019-0558-2. Epub 2019 Jun 04.

PURPOSE: Minorities are often underrepresented in clinical cancer research yet the frequency of reporting of race in genomic sequencing studies of cancer is unknown. This scoping review determines the rate at which race is reported as a demographic variable,...

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Nugent A, Conatser KR, Turner LL, et al. Reporting of race in genome and exome sequencing studies of cancer: a scoping review of the literature. Genet Med. 2019;21(12):2676-2680doi: 10.1038/s41436-019-0558-2.
Nugent, A., Conatser, K. R., Turner, L. L., Nugent, J. T., Sarino, E. M. B., & Ricks-Santi, L. J. (2019). Reporting of race in genome and exome sequencing studies of cancer: a scoping review of the literature. Genetics in medicine : official journal of the American College of Medical Genetics, 21(12), 2676-2680. https://doi.org/10.1038/s41436-019-0558-2
Nugent, Adrienne, et al. "Reporting of race in genome and exome sequencing studies of cancer: a scoping review of the literature." Genetics in medicine : official journal of the American College of Medical Genetics vol. 21,12 (2019): 2676-2680. doi: https://doi.org/10.1038/s41436-019-0558-2
Nugent A, Conatser KR, Turner LL, Nugent JT, Sarino EMB, Ricks-Santi LJ. Reporting of race in genome and exome sequencing studies of cancer: a scoping review of the literature. Genet Med. 2019 Dec;21(12):2676-2680. doi: 10.1038/s41436-019-0558-2. Epub 2019 Jun 04. PMID: 31160752; PMCID: PMC6891161.
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Economic value of exome sequencing for suspected monogenic disorders.

Genetics in medicine : official journal of the American College of Medical Genetics

Ferket BS, Veenstra DL.
PMID: 32601385
Genet Med. 2020 Nov;22(11):1909. doi: 10.1038/s41436-020-0888-0. Epub 2020 Jun 30.

No abstract available.

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Ferket BS, Veenstra DL. Economic value of exome sequencing for suspected monogenic disorders. Genet Med. 2020;22(11):1909doi: 10.1038/s41436-020-0888-0.
Ferket, B. S., & Veenstra, D. L. (2020). Economic value of exome sequencing for suspected monogenic disorders. Genetics in medicine : official journal of the American College of Medical Genetics, 22(11), 1909. https://doi.org/10.1038/s41436-020-0888-0
Ferket, Bart S, and Veenstra, David L. "Economic value of exome sequencing for suspected monogenic disorders." Genetics in medicine : official journal of the American College of Medical Genetics vol. 22,11 (2020): 1909. doi: https://doi.org/10.1038/s41436-020-0888-0
Ferket BS, Veenstra DL. Economic value of exome sequencing for suspected monogenic disorders. Genet Med. 2020 Nov;22(11):1909. doi: 10.1038/s41436-020-0888-0. Epub 2020 Jun 30. PMID: 32601385.
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Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.

Genetics in medicine : official journal of the American College of Medical Genetics

Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan TY, Gaff CL, White SM.
PMID: 29765138
Genet Med. 2019 Jan;21(1):173-180. doi: 10.1038/s41436-018-0006-8. Epub 2018 May 15.

PURPOSE: To systematically investigate the longer-term clinical and health economic impacts of genomic sequencing for rare-disease diagnoses.METHODS: We collected information on continuing diagnostic investigation, changes in management, cascade testing, and parental reproductive outcomes in 80 infants who underwent singleton...

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Stark Z, Schofield D, Martyn M, et al. Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness. Genet Med. 2018;21(1):173-180doi: 10.1038/s41436-018-0006-8.
Stark, Z., Schofield, D., Martyn, M., Rynehart, L., Shrestha, R., Alam, K., Lunke, S., Tan, T. Y., Gaff, C. L., & White, S. M. (2019). Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness. Genetics in medicine : official journal of the American College of Medical Genetics, 21(1), 173-180. https://doi.org/10.1038/s41436-018-0006-8
Stark, Zornitza, et al. "Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness." Genetics in medicine : official journal of the American College of Medical Genetics vol. 21,1 (2019): 173-180. doi: https://doi.org/10.1038/s41436-018-0006-8
Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan TY, Gaff CL, White SM. Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness. Genet Med. 2019 Jan;21(1):173-180. doi: 10.1038/s41436-018-0006-8. Epub 2018 May 15. PMID: 29765138.
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Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.

Nature reviews. Genetics

Bahcall OG.
PMID: 27629930
Nat Rev Genet. 2016 Sep 15;17(10):584. doi: 10.1038/nrg.2016.121.

No abstract available.

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Bahcall OG. Genetic variation: ExAC boosts clinical variant interpretation in rare diseases. Nat Rev Genet. 2016;17(10):584doi: 10.1038/nrg.2016.121.
Bahcall, O. G. (2016). Genetic variation: ExAC boosts clinical variant interpretation in rare diseases. Nature reviews. Genetics, 17(10), 584. https://doi.org/10.1038/nrg.2016.121
Bahcall, Orli G. "Genetic variation: ExAC boosts clinical variant interpretation in rare diseases." Nature reviews. Genetics vol. 17,10 (2016): 584. doi: https://doi.org/10.1038/nrg.2016.121
Bahcall OG. Genetic variation: ExAC boosts clinical variant interpretation in rare diseases. Nat Rev Genet. 2016 Sep 15;17(10):584. doi: 10.1038/nrg.2016.121. PMID: 27629930.
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Evolutionary diagnosis method for variants in personal exomes.

Nature methods

Kumar S, Sanderford M, Gray VE, Ye J, Liu L.
PMID: 22936163
Nat Methods. 2012 Sep;9(9):855-6. doi: 10.1038/nmeth.2147.

No abstract available.

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Kumar S, Sanderford M, Gray VE, et al. Evolutionary diagnosis method for variants in personal exomes. Nat Methods. 2012;9(9):855-6doi: 10.1038/nmeth.2147.
Kumar, S., Sanderford, M., Gray, V. E., Ye, J., & Liu, L. (2012). Evolutionary diagnosis method for variants in personal exomes. Nature methods, 9(9), 855-6. https://doi.org/10.1038/nmeth.2147
Kumar, Sudhir, et al. "Evolutionary diagnosis method for variants in personal exomes." Nature methods vol. 9,9 (2012): 855-6. doi: https://doi.org/10.1038/nmeth.2147
Kumar S, Sanderford M, Gray VE, Ye J, Liu L. Evolutionary diagnosis method for variants in personal exomes. Nat Methods. 2012 Sep;9(9):855-6. doi: 10.1038/nmeth.2147. PMID: 22936163; PMCID: PMC3810944.
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Benchmarking pipelines for subclonal deconvolution of bulk tumour sequencing data.

Nature communications

Tanner G, Westhead DR, Droop A, Stead LF.
PMID: 34737285
Nat Commun. 2021 Nov 04;12(1):6396. doi: 10.1038/s41467-021-26698-7.

Intratumour heterogeneity provides tumours with the ability to adapt and acquire treatment resistance. The development of more effective and personalised treatments for cancers, therefore, requires accurate characterisation of the clonal architecture of tumours, enabling evolutionary dynamics to be tracked....

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Tanner G, Westhead DR, Droop A, et al. Benchmarking pipelines for subclonal deconvolution of bulk tumour sequencing data. Nat Commun. 2021;12(1):6396doi: 10.1038/s41467-021-26698-7.
Tanner, G., Westhead, D. R., Droop, A., & Stead, L. F. (2021). Benchmarking pipelines for subclonal deconvolution of bulk tumour sequencing data. Nature communications, 12(1), 6396. https://doi.org/10.1038/s41467-021-26698-7
Tanner, Georgette, et al. "Benchmarking pipelines for subclonal deconvolution of bulk tumour sequencing data." Nature communications vol. 12,1 (2021): 6396. doi: https://doi.org/10.1038/s41467-021-26698-7
Tanner G, Westhead DR, Droop A, Stead LF. Benchmarking pipelines for subclonal deconvolution of bulk tumour sequencing data. Nat Commun. 2021 Nov 04;12(1):6396. doi: 10.1038/s41467-021-26698-7. PMID: 34737285; PMCID: PMC8569188.
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A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

Rotunno M, Barajas R, Clyne M, Hoover E, Simonds NI, Lam TK, Mechanic LE, Goldstein AM, Gillanders EM.
PMID: 32467344
Cancer Epidemiol Biomarkers Prev. 2020 Aug;29(8):1519-1534. doi: 10.1158/1055-9965.EPI-19-1551. Epub 2020 May 28.

The application of next-generation sequencing (NGS) technologies in cancer research has accelerated the discovery of somatic mutations; however, progress in the identification of germline variation associated with cancer risk is less clear. We conducted a systematic literature review of...

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Rotunno M, Barajas R, Clyne M, et al. A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer. Cancer Epidemiol Biomarkers Prev. 2020;29(8):1519-1534doi: 10.1158/1055-9965.EPI-19-1551.
Rotunno, M., Barajas, R., Clyne, M., Hoover, E., Simonds, N. I., Lam, T. K., Mechanic, L. E., Goldstein, A. M., & Gillanders, E. M. (2020). A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 29(8), 1519-1534. https://doi.org/10.1158/1055-9965.EPI-19-1551
Rotunno, Melissa, et al. "A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer." Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology vol. 29,8 (2020): 1519-1534. doi: https://doi.org/10.1158/1055-9965.EPI-19-1551
Rotunno M, Barajas R, Clyne M, Hoover E, Simonds NI, Lam TK, Mechanic LE, Goldstein AM, Gillanders EM. A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer. Cancer Epidemiol Biomarkers Prev. 2020 Aug;29(8):1519-1534. doi: 10.1158/1055-9965.EPI-19-1551. Epub 2020 May 28. PMID: 32467344; PMCID: PMC8279039.
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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics

Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA.
PMID: 25412400
Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20.

PURPOSE: Next-generation sequencing-based methods are being adopted broadly for genetic diagnostic testing, but the performance characteristics of these techniques with regard to test accuracy and reproducibility have not been fully defined.METHODS: We developed a targeted enrichment and next-generation sequencing...

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Consugar MB, Navarro-Gomez D, Place EM, et al. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med. 2014;17(4):253-261doi: 10.1038/gim.2014.172.
Consugar, M. B., Navarro-Gomez, D., Place, E. M., Bujakowska, K. M., Sousa, M. E., Fonseca-Kelly, Z. D., Taub, D. G., Janessian, M., Wang, D. Y., Au, E. D., Sims, K. B., Sweetser, D. A., Fulton, A. B., Liu, Q., Wiggs, J. L., Gai, X., & Pierce, E. A. (2015). Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genetics in medicine : official journal of the American College of Medical Genetics, 17(4), 253-261. https://doi.org/10.1038/gim.2014.172
Consugar, Mark B, et al. "Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing." Genetics in medicine : official journal of the American College of Medical Genetics vol. 17,4 (2015): 253-261. doi: https://doi.org/10.1038/gim.2014.172
Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20. PMID: 25412400; PMCID: PMC4572572.
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The power of large-scale exome sequencing.

Nature reviews. Genetics

Koch L.
PMID: 34267364
Nat Rev Genet. 2021 Sep;22(9):549. doi: 10.1038/s41576-021-00397-x.

No abstract available.

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Koch L. The power of large-scale exome sequencing. Nat Rev Genet. 2021;22(9):549doi: 10.1038/s41576-021-00397-x.
Koch, L. (2021). The power of large-scale exome sequencing. Nature reviews. Genetics, 22(9), 549. https://doi.org/10.1038/s41576-021-00397-x
Koch, Linda. "The power of large-scale exome sequencing." Nature reviews. Genetics vol. 22,9 (2021): 549. doi: https://doi.org/10.1038/s41576-021-00397-x
Koch L. The power of large-scale exome sequencing. Nat Rev Genet. 2021 Sep;22(9):549. doi: 10.1038/s41576-021-00397-x. PMID: 34267364.
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Showing 1 to 12 of 18 entries