The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing [version 1; referees: 2 approved]

by Shazia Mahamdallie, Elise Ruark, Esty Holt, Emma Poyastro-Pearson, Anthony Renwick, Ann Strydom, Sheila Seal, Nazneen Rahman
Published 2018-06-01

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series [version 2; referees: 2 approved]

by Elise Ruark, Esty Holt, Anthony Renwick, Márton Münz, Matthew Wakeling, Sian Ellard, Shazia Mahamdallie, Shawn Yost, Nazneen Rahman
Published 2018-10-01

Integrated mapping of establishment risk for emerging vector-borne infections: a case study of canine leishmaniasis in southwest France.

by Nienke Hartemink, Sophie O Vanwambeke, Hans Heesterbeek, David Rogers, David Morley, Bernard Pesson, Clive Davies, Shazia Mahamdallie, Paul Ready
Published 2011-01-01

CoverView: a sequence quality evaluation tool for next generation sequencing data [version 1; referees: 2 approved]

by Márton Münz, Shazia Mahamdallie, Shawn Yost, Andrew Rimmer, Emma Poyastro-Pearson, Ann Strydom, Sheila Seal, Elise Ruark, Nazneen Rahman
Published 2018-04-01

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assurance [version 1; referees: 2 approved, 1 approv...

by Shazia Mahamdallie, Elise Ruark, Shawn Yost, Márton Münz, Anthony Renwick, Emma Poyastro-Pearson, Ann Strydom, Sheila Seal, Nazneen Rahman
Published 2018-04-01

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN [version 1; referees: 2 approved]

by Anna Fowler, Shazia Mahamdallie, Elise Ruark, Sheila Seal, Emma Ramsay, Matthew Clarke, Imran Uddin, Harriet Wylie, Ann Strydom, Gerton Lunter, Nazneen Rahman
Published 2016-11-01

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data [version 1; referees: 2 approved]

by Shazia Mahamdallie, Elise Ruark, Shawn Yost, Emma Ramsay, Imran Uddin, Harriett Wylie, Anna Elliott, Ann Strydom, Anthony Renwick, Sheila Seal, Nazneen Rahman
Published 2017-05-01

The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved]

by Elise Ruark, Márton Münz, Anthony Renwick, Matthew Clarke, Emma Ramsay, Sandra Hanks, Shazia Mahamdallie, Anna Elliott, Sheila Seal, Ann Strydom, Lunter Gerton, Nazneen Rahman
Published 2015-09-01

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 2 approved]

by Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman
Published 2018-04-01