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

Year Number of Results
1980 3
1981 3
1982 4
1983 10
1984 20
1985 34
1986 52
1987 67
1988 84
1989 97
1990 126
1991 193
1992 242
1993 322
1994 339
1995 360
1996 324
1997 303
1998 300
1999 369
2000 324
2001 386
2002 365
2003 363
2004 417
2005 446
2006 456
2007 460
2008 484
2009 526
2010 542
2011 586
2012 637
2013 710
2014 856
2015 1077
2016 1240
2017 1363
2018 1611
2019 1954
2020 2080
2021 2181
2022 2045
2023 1836
2024 767

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24,388 results

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Paired-cell sequencing enables spatial gene expression mapping of liver endothelial cells.
Halpern KB, Shenhav R, Massalha H, Toth B, Egozi A, Massasa EE, Medgalia C, David E, Giladi A, Moor AE, Porat Z, Amit I, Itzkovitz S. Halpern KB, et al. Nat Biotechnol. 2018 Nov;36(10):962-970. doi: 10.1038/nbt.4231. Epub 2018 Sep 17. Nat Biotechnol. 2018. PMID: 30222169 Free PMC article.
Here we used paired-cell sequencing, in which mRNA from pairs of attached mouse cells were sequenced and gene expression from one cell type was used to infer the pairs' tissue coordinates. ...Using the spatial information from hepatocytes, we reconstructed LE …
Here we used paired-cell sequencing, in which mRNA from pairs of attached mouse cells were sequenced and gene expressio …
[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.
NGS techniques analyze DNA regions of interest in view accurately determining the relevant nucleotide sequence. Different kinds of analysis apply NGS : multigene panel testing, Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS). Whil …
NGS techniques analyze DNA regions of interest in view accurately determining the relevant nucleotide sequence. Different kinds of …
Clinical sequencing: is WGS the better WES?
Meienberg J, Bruggmann R, Oexle K, Matyas G. Meienberg J, et al. Hum Genet. 2016 Mar;135(3):359-62. doi: 10.1007/s00439-015-1631-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742503 Free PMC article.
Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective capturing of target regions. However, capturing has limitations in sufficiently covering coding exons, especially GC-rich regio …
Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which invol …
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Ellingford JM, et al. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. Genome Med. 2022. PMID: 35850704 Free PMC article.
The important role of variants in non-coding regions in penetrant disease is, however, increasingly being demonstrated, and the use of whole genome sequencing in clinical diagnostic settings is rising across a large range of genetic disorders. ...This panel discusse …
The important role of variants in non-coding regions in penetrant disease is, however, increasingly being demonstrated, and the use of whole …
Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene.
Rocca MS, Ferrarini M, Msaki A, Vinanzi C, Ghezzi M, De Rocco Ponce M, Foresta C, Ferlin A. Rocca MS, et al. Mol Genet Genomic Med. 2020 Jun;8(6):e1207. doi: 10.1002/mgg3.1207. Epub 2020 Mar 25. Mol Genet Genomic Med. 2020. PMID: 32216057 Free PMC article.
BACKGROUND: The androgen receptor (AR) is a nuclear receptor, encoded by the AR gene on the X chromosome. Within the first exon of the AR gene, two short tandem repeats (STR), CAG and GGC, are a source of polymorphism in the population. ...Here, we evaluated the acc …
BACKGROUND: The androgen receptor (AR) is a nuclear receptor, encoded by the AR gene on the X chromosome. Within the first exon of th …
Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing.
Ura H, Togi S, Niida Y. Ura H, et al. Int J Mol Sci. 2020 May 16;21(10):3530. doi: 10.3390/ijms21103530. Int J Mol Sci. 2020. PMID: 32429412 Free PMC article.
Cancer gene panel testing requires accurate detection of somatic mosaic mutations, as the test sample consists of a mixture of cancer cells and normal cells; each minor clone in the tumor also has different somatic mutations. ...Comparing three somatic variant calle …
Cancer gene panel testing requires accurate detection of somatic mosaic mutations, as the test sample consists of a mixture of …
Pitfalls of clinical exome and gene panel testing: alternative transcripts.
Bodian DL, Kothiyal P, Hauser NS. Bodian DL, et al. Genet Med. 2019 May;21(5):1240-1245. doi: 10.1038/s41436-018-0319-7. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293991 Free article.
We investigated whether interrogation of alternative transcripts in known disease genes could provide answers for additional patients. METHODS: We integrated alternative transcripts for known neonatal epilepsy genes with RNA-Seq data to identify brain-expressed codi …
We investigated whether interrogation of alternative transcripts in known disease genes could provide answers for additional patients …
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Barman-Aksözen J, Suter L, Wegmann F, Meienberg J, Minder AE, Beer M, Komminoth P, Minder EI, Schneider-Yin X. Barman-Aksözen J, et al. Scand J Clin Lab Invest. 2019 Sep;79(5):305-313. doi: 10.1080/00365513.2019.1622030. Epub 2019 Jun 1. Scand J Clin Lab Invest. 2019. PMID: 31154864
Molecular diagnosis of autosomal dominant acute hepatic porphyrias (AHPs) plays an important role in the management of these disorders. To introduce next generation sequencing (NGS) to the porphyria diagnosis, we designed a panel that contained four genes, AL …
Molecular diagnosis of autosomal dominant acute hepatic porphyrias (AHPs) plays an important role in the management of these disorders. To i …
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, Ong LC, Cham B, Tan P, Rozen S, Tan EC. Brett M, et al. PLoS One. 2014 Apr 1;9(4):e93409. doi: 10.1371/journal.pone.0093409. eCollection 2014. PLoS One. 2014. PMID: 24690944 Free PMC article.
At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on …
At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) usi …
Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.
Milla E, Laguna J, Alforja MS, Pascual B, Gamundi MJ, Borràs E, Hernán I, Muniesa MJ, Pazos M, Duch S, Carballo M, Jodar M; EMEIGG group. Milla E, et al. PLoS One. 2024 Jan 19;19(1):e0282133. doi: 10.1371/journal.pone.0282133. eCollection 2024. PLoS One. 2024. PMID: 38241218 Free PMC article.
Additionally, we sequenced the coding sequence of CYP1B1 gene in 13 independent patients to deep analyze the potential association of hypomorphic CYP1B1 alleles in the pathogenesis of POAG. ...Those rare variants are located in CYP1B1, SIX6, CARD10, MFN1, OPT …
Additionally, we sequenced the coding sequence of CYP1B1 gene in 13 independent patients to deep analyze the potential …
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