Browsing ICR Divisions by author "Rahman, Sabera"
Now showing items 1-8 of 8
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Characterizing genetic variants for clinical action.
Ramos, EM; Din-Lovinescu, C; Berg, JS; Brooks, LD; Duncanson, A; et al. (2014-03-13)Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, ... -
CoverView: a sequence quality evaluation tool for next generation sequencing data.
Münz, M; Mahamdallie, S; Yost, S; Rimmer, A; Poyastro-Pearson, E; et al. (2018-01)Quality assurance and quality control are essential for robust next generation sequencing (NGS). Here we present CoverView, a fast, flexible, user-friendly quality evaluation tool for NGS data. CoverView processes mapped ... -
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.
Ruark, E; Holt, E; Renwick, A; Münz, M; Wakeling, M; et al. (2018-01)Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial and academic NGS pipelines. Such assessments should be performed ... -
The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing.
Mahamdallie, S; Ruark, E; Holt, E; Poyastro-Pearson, E; Renwick, A; et al. (2018-01)The analytical sensitivity of a next generation sequencing (NGS) test reflects the ability of the test to detect real sequence variation. The evaluation of analytical sensitivity relies on the availability of gold-standard, ... -
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.
Mahamdallie, S; Ruark, E; Yost, S; Ramsay, E; Uddin, I; et al. (2017-01)Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) ... -
The integration of BRCA testing into oncology clinics.
Percival, N; George, A; Gyertson, J; Hamill, M; Fernandes, A; et al. (2016-06)Purpose The PARP inhibitor, Olaparib, is approved for women with BRCA-mutated ovarian cancer. Therefore there is an urgent need to test patients and obtain results in time to influence treatment. Models of BRCA testing, ... -
The NSD1 and EZH2 overgrowth genes, similarities and differences.
Tatton-Brown, K; Rahman, N (2013-05)NSD1 and EZH2 are SET domain-containing histone methyltransferases that play key roles in the regulation of transcription through histone modification and chromatin modeling: NSD1 preferentially methylates lysine residue ... -
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance.
Mahamdallie, S; Ruark, E; Yost, S; Münz, M; Renwick, A; et al. (2018-01)Next generation sequencing (NGS) is routinely used in clinical genetic testing. Quality management of NGS testing is essential to ensure performance is consistently and rigorously evaluated. Three primary metrics are used ...