Evidence map›Paper›PMID 28968714›Full record

ArticleBioinformatics (Oxford, England)2018

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features.

Mark F Rogers, Hashem A Shihab, Matthew Mort, David N Cooper, Tom R Gaunt, Colin Campbell

Open access · hybridAbstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 289 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
289citing papers in PubMed, 3 pooled it
28.4field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

289 citing papers in PubMed, 3 syntheses or guidelines pooled it, 534 citations in OpenAlex.

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  17. An Integrative Variant Scoring Function for Finding Novel Genes Associated with Ovarian and Thyroid Cancer.International journal of environmental research and public health · 2026
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229 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Mark F RogersIntelligent Systems Laboratory, University of Bristol, Bristol BS8?1UB, UK.
Hashem A ShihabMRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8?2BN, UK.
Matthew MortInstitute of Medical Genetics, Cardiff University, Cardiff CF14?4XN, UK.
David N CooperInstitute of Medical Genetics, Cardiff University, Cardiff CF14?4XN, UK.
Tom R GauntMRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8?2BN, UK.
Colin CampbellIntelligent Systems Laboratory, University of Bristol, Bristol BS8?1UB, UK.
University of Bristol · GBCardiff University · GBMRC Epidemiology Unit · GB

Funding

Medical Research Council G1000427Medical Research Council MC_UU_00011/4Medical Research Council MC_UU_12013/8
6 · The paper itself

Abstract

Summary: We present FATHMM-XF, a method for predicting pathogenic point mutations in the human genome. Drawing on an extensive feature set, FATHMM-XF outperforms competitors on benchmark tests, particularly in non-coding regions where the majority of pathogenic mutations are likely to be found. Availability and implementation: The FATHMM-XF web server is available at http://fathmm.biocompute.org.uk/fathmm-xf/, and as tracks on the Genome Tolerance Browser: http://gtb.biocompute.org.uk. Predictions are provided for human genome version GRCh37/hg19. The data used for this project can be downloaded from: http://fathmm.biocompute.org.uk/fathmm-xf/. Contact: mark.rogers@bristol.ac.uk or c.campbell@bristol.ac.uk. Supplementary information: Supplementary data are available at Bioinformatics online.

Indexed as

Point MutationSoftwareGenome, HumanGenomicsHumansSequence Analysis, DNA

Identifiers

PMID28968714
PMCPMC5860356
OpenAlexW2751686252

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.