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Nazneen Rahman

Showing results (31-40 of 154) with videos related to

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Wellcome Open Research|December 4, 2018
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation seriesElise Ruark, Esty Holt, Anthony Renwick, et al.
Scientific Reports|August 4, 2016
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysisElise Ruark, Márton Münz, Matthew Clarke, et al.
European Journal of Human Genetics : EJHG|October 16, 2004
Evaluation of NSD2 and NSD3 in overgrowth syndromesJenny Douglas, Kim Coleman, Katrina Tatton-Brown, et al.
Wellcome Open Research|June 9, 2018
CoverView: a sequence quality evaluation tool for next generation sequencing dataMárton Münz, Shazia Mahamdallie, Shawn Yost, et al.
Wellcome Open Research|July 12, 2018
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assuranceShazia Mahamdallie, Elise Ruark, Shawn Yost, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 16, 2004
Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group StudySuzanne E Little, Sandra P Hanks, Linda King-Underwood, et al.
F1000Research|September 26, 2018
The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysisElise Ruark, Anthony Renwick, Matthew Clarke, et al.
Familial Cancer|December 29, 2010
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastomaIngrid Slade, Anne Murray, Sandra Hanks, et al.
Journal of Medical Genetics|July 3, 2007
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutationsRichard H Scott, Tessa Homfray, Nicola L Huxter, et al.
Wellcome Open Research|December 31, 2019
Genomic variant sharing: a position statementCaroline F Wright, James S Ware, Anneke M Lucassen, et al.
Pageof 16

Showing results (31-40 of 154) with videos related to

Sort By:
Pageof 16
Wellcome Open Research|December 4, 2018
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation seriesElise Ruark, Esty Holt, Anthony Renwick, et al.
Scientific Reports|August 4, 2016
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysisElise Ruark, Márton Münz, Matthew Clarke, et al.
European Journal of Human Genetics : EJHG|October 16, 2004
Evaluation of NSD2 and NSD3 in overgrowth syndromesJenny Douglas, Kim Coleman, Katrina Tatton-Brown, et al.
Wellcome Open Research|June 9, 2018
CoverView: a sequence quality evaluation tool for next generation sequencing dataMárton Münz, Shazia Mahamdallie, Shawn Yost, et al.
Wellcome Open Research|July 12, 2018
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assuranceShazia Mahamdallie, Elise Ruark, Shawn Yost, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 16, 2004
Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group StudySuzanne E Little, Sandra P Hanks, Linda King-Underwood, et al.
F1000Research|September 26, 2018
The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysisElise Ruark, Anthony Renwick, Matthew Clarke, et al.
Familial Cancer|December 29, 2010
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastomaIngrid Slade, Anne Murray, Sandra Hanks, et al.
Journal of Medical Genetics|July 3, 2007
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutationsRichard H Scott, Tessa Homfray, Nicola L Huxter, et al.
Wellcome Open Research|December 31, 2019
Genomic variant sharing: a position statementCaroline F Wright, James S Ware, Anneke M Lucassen, et al.
Pageof 16