"targeted sequencing" trang 3 - tải miễn phí từ tailieuXANH
Báo cáo y học:

Báo cáo y học: "Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families"
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A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: A case report

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: A case report
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Tumor mutational burden is associated with poor outcomes in diffuse glioma

Tumor mutational burden is associated with poor outcomes in diffuse glioma
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Technical advance in targeted NGS analysis enables identification of lung cancer riskassociated low frequency TP53, PIK3CA, and BRAF mutations in airway epithelial cells

Technical advance in targeted NGS analysis enables identification of lung cancer riskassociated low frequency TP53, PIK3CA, and BRAF mutations in airway epithelial cells
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A refractory case of CDK4-amplified spinal astrocytoma achieving complete response upon treatment with a Palbociclib-based regimen: A case report

A refractory case of CDK4-amplified spinal astrocytoma achieving complete response upon treatment with a Palbociclib-based regimen: A case report
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Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report

Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report
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Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: A case report

Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: A case report
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Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma
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TarPan: An easily adaptable targeted sequencing panel viewer for research and clinical use

TarPan: An easily adaptable targeted sequencing panel viewer for research and clinical use
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VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database
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Variant site strain typer (VaST): Efficient strain typing using a minimal number of variant genomic sites

Variant site strain typer (VaST): Efficient strain typing using a minimal number of variant genomic sites
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Ioncopy: An R Shiny app to call copy number alterations in targeted NGS data

Ioncopy: An R Shiny app to call copy number alterations in targeted NGS data
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Canary: An atomic pipeline for clinical amplicon assays

Canary: An atomic pipeline for clinical amplicon assays
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AmpliMethProfiler: A pipeline for the analysis of CpG methylation profiles of targeted deep bisulfite sequenced amplicons

AmpliMethProfiler: A pipeline for the analysis of CpG methylation profiles of targeted deep bisulfite sequenced amplicons
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MethPat: A tool for the analysis and visualisation of complex methylation patterns obtained by massively parallel sequencing

MethPat: A tool for the analysis and visualisation of complex methylation patterns obtained by massively parallel sequencing
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Flexible and efficient genome tiling design with penalized uniqueness score

Flexible and efficient genome tiling design with penalized uniqueness score
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Cancer of unknown primary with EGFR mutation successfully treated with targeted therapy directed by clinical next-generation sequencing: A case report

Cancer of unknown primary with EGFR mutation successfully treated with targeted therapy directed by clinical next-generation sequencing: A case report
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Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China

Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China
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A new mouse SNP genotyping assay for speed congenics: Combining flexibility, affordability, and power

A new mouse SNP genotyping assay for speed congenics: Combining flexibility, affordability, and power
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GMIEC: A shiny application for the identification of gene-targeted drugs for precision medicine

GMIEC: A shiny application for the identification of gene-targeted drugs for precision medicine
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