Table 2B Overview on algorithms used for the validation and interpretation of genetic variants

From: Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use

Algorithm

URL

Description

Align GVGD

agvgd.hci.utah.edu

Free web-based program for classification of missense variants

SIFT

sift.bii.a-star.edu.sg

Free web-based program for prediction of missense variant effect on protein function

MutationTaster

www.mutationtaster.org

Free web-based program for prediction of disease-causing potential of DNA variants

PolyPhen-2

genetics.bwh.harvard.edu

Free web-based program for prediction of missense variant effect on protein structure and function

Provean

provean.jcvi.org

Free web-based program for prediction of missense and indel variant effect on protein function

FATHMM

fathmm.biocompute.org.uk

Free web-based program for prediction of functional consequences of coding and non-coding variants

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