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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 3
2013 6
2014 17
2015 38
2016 38
2017 60
2018 76
2019 98
2020 110
2021 123
2022 112
2023 111
2024 46

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734 results

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Page 1
Genetics of Azoospermia.
Cioppi F, Rosta V, Krausz C. Cioppi F, et al. Int J Mol Sci. 2021 Mar 23;22(6):3264. doi: 10.3390/ijms22063264. Int J Mol Sci. 2021. PMID: 33806855 Free PMC article. Review.
Whole-Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate genes. These genes are of potential clinical relevance for future gene panel-based screening. We classified thes …
Whole-Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate gene …
Exome/Genome Sequencing in Undiagnosed Syndromes.
Sullivan JA, Schoch K, Spillmann RC, Shashi V. Sullivan JA, et al. Annu Rev Med. 2023 Jan 27;74:489-502. doi: 10.1146/annurev-med-042921-110721. Annu Rev Med. 2023. PMID: 36706750 Free PMC article. Review.
Exome sequencing (ES) and genome sequencing (GS) have radically transformed the diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation sequencing (NGS), the technology integral for ES, GS, and most large (100+) gene panels, has …
Exome sequencing (ES) and genome sequencing (GS) have radically transformed the diagnostic approach to undiagnosed rare/ultrarare Mendelian …
Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Jennings LJ, Arcila ME, Corless C, Kamel-Reid S, Lubin IM, Pfeifer J, Temple-Smolkin RL, Voelkerding KV, Nikiforova MN. Jennings LJ, et al. J Mol Diagn. 2017 May;19(3):341-365. doi: 10.1016/j.jmoldx.2017.01.011. Epub 2017 Mar 21. J Mol Diagn. 2017. PMID: 28341590 Free PMC article. Review.
Next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted by clinical laboratories. To establish analytical validation best practice guidelines for NGS gene panel testing of somatic variants, a working group wa …
Next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted by clinical laboratories. To establish a …
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. Truty R, et al. Epilepsia Open. 2019 Jul 1;4(3):397-408. doi: 10.1002/epi4.12348. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440721 Free PMC article.
METHODS: We used a multi-gene next-generation sequencing (NGS) panel with simultaneous sequence and exonic copy number variant detection to investigate up to 183 epilepsy-related genes in 9769 individuals. Clinical variant interpretation was performed …
METHODS: We used a multi-gene next-generation sequencing (NGS) panel with simultaneous sequence and exonic copy number …
[NGS-based multi-gene panel testing in hematological malignancies: therapeutic significance].
Maeda T. Maeda T. Rinsho Ketsueki. 2022;63(4):302-307. doi: 10.11406/rinketsu.63.302. Rinsho Ketsueki. 2022. PMID: 35491220 Review. Japanese.
Next-generation sequencing (NGS)-based multigene panel testing enables assessment of the mutational status of a few hundred genes associated with cancer pathogenesis. ...However, genome profiling in hematologic malignancies also guides the clini …
Next-generation sequencing (NGS)-based multigene panel testing enables assessment of the mutational status of a …
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC. LaDuca H, et al. PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017. PLoS One. 2017. PMID: 28152038 Free PMC article.
BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater nu …
BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians …
[Next Generation Sequencing (NGS) for beginners].
Georget M, Pisan E. Georget M, et al. Rev Mal Respir. 2023 Apr;40(4):345-358. doi: 10.1016/j.rmr.2023.01.026. Epub 2023 Mar 1. Rev Mal Respir. 2023. PMID: 36863993 Review. French.
Different kinds of analysis apply NGS : multigene panel testing, Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS). While regions of interest depend on the type of analysis (multigene panels testing studies the exons of genes …
Different kinds of analysis apply NGS : multigene panel testing, Whole Exome Sequencing (WES) and Whole Genome Sequenci …
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B. Bhai P, et al. Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595. eCollection 2021. Front Genet. 2021. PMID: 34326862 Free PMC article.
BACKGROUND: Hereditary cancer predisposition syndromes account for approximately 10% of cancer cases. Next generation sequencing (NGS) based multi-gene targeted panels is now a frontline approach to identify pathogenic mutations in cancer predispositio …
BACKGROUND: Hereditary cancer predisposition syndromes account for approximately 10% of cancer cases. Next generation sequencing (NGS …
Next generation sequencing-based gene panel tests for the management of solid tumors.
Nagahashi M, Shimada Y, Ichikawa H, Kameyama H, Takabe K, Okuda S, Wakai T. Nagahashi M, et al. Cancer Sci. 2019 Jan;110(1):6-15. doi: 10.1111/cas.13837. Epub 2018 Nov 27. Cancer Sci. 2019. PMID: 30338623 Free PMC article. Review.
The incorporation of clinically relevant target sequences into NGS-based gene panel tests has generated practical diagnostic tools that enable individualized cancer-patient care. ...In this review, we describe the concept of precision cancer med …
The incorporation of clinically relevant target sequences into NGS-based gene panel tests has generated p …
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
Ganapathy A, Mishra A, Soni MR, Kumar P, Sadagopan M, Kanthi AV, Patric IRP, George S, Sridharan A, Thyagarajan TC, Aswathy SL, Vidya HK, Chinnappa SM, Nayanala S, Prakash MB, Raghavendrachar VG, Parulekar M, Gowda VK, Nampoothiri S, Menon RN, Pachat D, Udani V, Naik N, Kamate M, Devi ARR, Mohammed Kunju PA, Nair M, Hegde AU, Kumar MP, Sundaram S, Tilak P, Puri RD, Shah K, Sheth J, Hasan Q, Sheth F, Agrawal P, Katragadda S, Veeramachaneni V, Chandru V, Hariharan R, Mannan AU. Ganapathy A, et al. J Neurol. 2019 Aug;266(8):1919-1926. doi: 10.1007/s00415-019-09358-1. Epub 2019 May 8. J Neurol. 2019. PMID: 31069529
METHODS: We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. ...CONCLUSION: In our study, we …
METHODS: We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic var …
734 results