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Predicting the Pathogenic Impact of Sequence Variation in the Human Genome

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Original languageEnglish
Title of host publicationInformatics for Health
Subtitle of host publicationConnected Citizen-Led Wellness and Population Health
EditorsRebecca Randell, Ronald Cornet, Colin McCowan, Niels Peek, Philip J Scott
Publisher or commissioning bodyIOS Press
Number of pages5
ISBN (Electronic)9781614997535
ISBN (Print)9781614997528
StatePublished - 17 May 2017
EventInformatics for Health 2017 - Manchester, United Kingdom

Publication series

NameStudies in Health Technology and Informatics
PublisherIOS Press
ISSN (Print)0926-9630
ISSN (Electronic)1879-8365


ConferenceInformatics for Health 2017
CountryUnited Kingdom


Sequencing data will become widely available in clinical practice within the near future. Uptake of sequence data is currently being stimulated within the UK through the government-funded 100,000 genomes project (Genomics England), with many similar initiatives being planned and supported internationally. The analysis of the large volumes of data derived from sequencing programmes poses a major challenge for data analysis. In this paper we outline progress we have made in the development of predictors for estimating the pathogenic impact of single nucleotide variants, indels and haploinsufficiency in the human genome. The accuracy of these methods is enhanced through the development of disease-specific predictors, trained on appropriate data, and used within a specific disease context. We outline current research on the development of disease-specific predictors, specifically in the context of cancer research.

    Research areas

  • Prediction, sequence data, variant, annotation, point mutation, indel


Informatics for Health 2017

Duration24 Apr 201726 Apr 2017
CountryUnited Kingdom
Degree of recognitionInternational event

Event: Conference

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    Rights statement: This is the final published version of the article (version of record). It first appeared online via IOS Press at Please refer to any applicable terms of use of the publisher

    Final published version, 191 KB, PDF-document

    License: CC BY-NC


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