Search filters

List of works by Shazia Mahamdallie

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

scientific article published on 25 November 2016

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

scientific article published on 28 July 2015

Clinical Annotation Reference Templates: a resource for consistent variant annotation

CoverView: a sequence quality evaluation tool for next generation sequencing data

scientific article

High throughput sequencing of microbial eukaryotes in Lake Baikal reveals ecologically differentiated communities and novel evolutionary radiations

scientific article

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

article by Elise Ruark et al published 31 August 2018 in Wellcome Open Research

Identification of new Wilms tumour predisposition genes: an exome sequencing study

article

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

scientific article published on 13 July 2016

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

scientific article

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

scientific article published on May 2017

Resolving the full spectrum of human genome variation using Linked-Reads

The ICR1000 UK exome series: a resource of gene variation in an outbred population

scientific article published on 22 September 2015

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

article

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

scientific article

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assurance

scientific article published on 4 April 2018

Paulina is supported by:

About Paulina

Help