Nazneen Rahman - Epidemiology

Author Information

Nazneen Rahman is affiliated with the Division of Genetics and Epidemiology at the Institute of Cancer Research in London, UK, and the Cancer Genetics Unit at the Royal Marsden NHS Foundation Trust, also in London, UK. Her research focuses on understanding the genetic basis of cancer and other diseases, with an emphasis on identifying pathogenic variants and their implications for clinical sensitivity and genetic test implementation.

Research Contributions

Nazneen Rahman has made significant contributions to the field of genetics and epidemiology, particularly in understanding the genetic underpinnings of various diseases. Her research includes the detection of pathogenic variants using next-generation sequencing (NGS), the impact of chromosomal instability, and the role of transcript expression in rare variant interpretation. She has also contributed to the understanding of multi-nucleotide variants, the effect of loss-of-function variants, and the evaluation of drug targets through genetic variation. Her work is well-cited and has had a considerable impact on both medical and population genetics.

Aliases

N Rahman, N. Rahman, Nazneen Rahman

Publication and Citation Metrics

Metric	Value
Citation Count	43,236
H-index	86
Paper Count	275

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

Why Use Linear Programming in Epidemiology?

How are Maternal Infections Transmitted?

What are Epidemiological Research Methods?

What Types of Data Can mHealth Devices Collect?

How does RNA Sequencing work?

What Role Do Partnerships Play?

What is Non-Response?

How is Community Feedback Collected?

Why is Community Clean Up Important in Epidemiology?

Why is Volatility Important?

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