Nazneen Rahman - Genetic Mutations

Author Information

Nazneen Rahman is affiliated with the Division of Genetics and Epidemiology at the Institute of Cancer Research in London, UK, as well as the Cancer Genetics Unit at the Royal Marsden NHS Foundation Trust, also in London, UK. Her research focuses on genetic epidemiology and cancer genetics, contributing significantly to the understanding of genetic variations and their implications in clinical settings.

Research Contributions

Nazneen Rahman has made substantial contributions to the field of genetics, particularly in the areas of genetic testing and cancer genetics. Her work includes significant findings on the difficulty of detecting pathogenic variants using Next-Generation Sequencing (NGS) and the impact of loss-of-function mutations. She has been involved in extensive studies analyzing large datasets, such as human exomes and genomes, to understand genetic variations better. Her research has important implications for improving clinical sensitivity in genetic testing and understanding the mutational landscape in human populations.

Aliases

N Rahman, N. Rahman, Nazneen Rahman

Publication and Citation Metrics

Metric	Value
Number of Papers	275
Citation Count	43,236
H-index	86

Publications:

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

DOI: 10.1038/s41436-021-01187-w

Year: 2021

Chromosomal instability by mutations in the novel minor spliceosome component CENATAC

DOI: 10.15252/embj.2020106536

Year: 2021

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

DOI: 10.1101/2020.07.22.20159434

Year: 2020

Transcript expression-aware annotation improves rare variant interpretation

DOI: 10.1038/s41586-020-2329-2

Year: 2020

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

DOI: 10.1038/s41467-019-12438-5

Year: 2020

The effect of LRRK2 loss-of-function variants in humans

DOI: 10.1038/s41591-020-0893-5

Year: 2020

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

DOI: 10.1038/s41467-019-10717-9

Year: 2020

Evaluating drug targets through human loss-of-function genetic variation

DOI: 10.1038/s41586-020-2267-z

Year: 2020

The mutational constraint spectrum quantified from variation in 141,456 humans

DOI: 10.1038/s41586-020-2308-7

Year: 2020

A structural variation reference for medical and population genetics

DOI: 10.1038/s41586-020-2287-8

Year: 2020

What are the types of inherited mutations?

What is Transversion?

What Is the Future of Genetic Mutation Research?

What is the Role of Epigenetics in Brain Development?

How Do Genes Work?

What Types of Prenatal Tests Are Available?

What is Cellular Heterogeneity?

How Can Genetic Counseling Help?

Is Hydroxyurea Mutagenic?

How is Cystic Fibrosis Inherited?

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