Genetic mutation analysis of Parkinson's disease patients using multigene next-generation sequencing panels
A Gorostidi, JF Martí-Massó, A Bergareche… - Molecular diagnosis & …, 2016 - Springer
… new undescribed mutations. Our genetic assessment found putative pathologic mutations in
… Thus, the gene sequencing panel test deserves consideration in the clinical management of …
… Thus, the gene sequencing panel test deserves consideration in the clinical management of …
Development of a gene panel for next-generation sequencing of clinically relevant mutations in cell-free DNA from cancer patients
U Malapelle, C Mayo de-Las-Casas, D Rocco… - British Journal of …, 2017 - nature.com
… ultra-deep sequencing using a narrow NGS panel on Ion Torrent … for the routine testing of
relevant tumour mutations in cfDNA. The … with that of NGS for mutational analysis in the blood of …
relevant tumour mutations in cfDNA. The … with that of NGS for mutational analysis in the blood of …
Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer
MN Nikiforova, AI Wald, S Roy… - The Journal of …, 2013 - academic.oup.com
… of mutation detection and quantitative assessment of mutant alleles (21). NGS offers
nucleotide sequencing … -genome sequencing, whole-exome sequencing, and whole-transcriptome …
nucleotide sequencing … -genome sequencing, whole-exome sequencing, and whole-transcriptome …
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2
C Kraus, J Hoyer, G Vasileiou… - … journal of cancer, 2017 - Wiley Online Library
… , panel testing yields more accurate information on genetic … 2 alone and wide-spread testing
will help improve penetrance … Mutation detection has relied mostly on Sanger sequencing …
will help improve penetrance … Mutation detection has relied mostly on Sanger sequencing …
Individualized mutation detection in circulating tumor DNA for monitoring colorectal tumor burden using a cancer-associated gene sequencing panel
KA Sato, T Hachiya, T Iwaya, K Kume, T Matsuo… - PloS one, 2016 - journals.plos.org
… In the meantime, mutations with high prevalence in primary tumors–the MMs from a
cancer-associated gene sequencing panel in the present study–may be one of the best surrogates …
cancer-associated gene sequencing panel in the present study–may be one of the best surrogates …
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
… For some of the undiagnosed individuals in this cohort, we anticipate that causal mutation(s)
will be identified within the next 2–3 years without the need to perform additional …
will be identified within the next 2–3 years without the need to perform additional …
Validation of an NGS mutation detection panel for melanoma
A Reiman, H Kikuchi, D Scocchia, P Smith, YW Tsang… - BMC cancer, 2017 - Springer
… panel for melanoma mutation detection. Our panel includes the genes commonly mutated in
… The panel described here has been used in one patient with metastatic melanoma who had …
… The panel described here has been used in one patient with metastatic melanoma who had …
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment
AW Kurian, EE Hare, MA Mills, KE Kingham… - Journal of clinical …, 2014 - ascopubs.org
… Multiple-gene sequencing is entering practice, but its clinical … of a customized germline-DNA
sequencing panel for cancer-risk … -founder mutations panel; full sequencing with analysis of …
sequencing panel for cancer-risk … -founder mutations panel; full sequencing with analysis of …
… molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing
… Single-gene testing of FGFR3 detects mutations in 99% of achondroplasia patients and is
therefore the most efficient approach in terms of both cost and time. However, the physician …
therefore the most efficient approach in terms of both cost and time. However, the physician …
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel
… gene sequencing analyses to arrive at an exact diagnosis [9]. The most frequently used …
diagnostic method is sequential gene-by-gene mutation detection by Sanger sequencing. …
diagnostic method is sequential gene-by-gene mutation detection by Sanger sequencing. …
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