Journal article

MTR-Viewer: identifying regions within genes under purifying selection

Michael Silk, Slave Petrovski, David B Ascher



Advances in genomic sequencing have enormous potential to revolutionize personalized medicine, however distinguishing disease-causing from benign variants remains a challenge. The increasing number of human genome and exome sequences available has revealed areas where unfavourable variation is removed through purifying selection. Here, we present the MTR-Viewer, a web-server enabling easy visualization at the gene or variant level of the Missense Tolerance Ratio (MTR), a measure of regional intolerance to missense variation calculated using variation from 240 000 exome and genome sequences. The MTR-Viewer enables exploration of MTR calculations, using different sliding windows, for over 18 0..

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Awarded by NHMRC R.D. Wright Career Development Fellowship

Awarded by Jack Brockhoff Foundation

Awarded by Newton Fund RCUK-CONFAP Grant - Medical Research Council (MRC)

Awarded by National Health and Medical Research Council of Australia

Funding Acknowledgements

Australian Government Research Training Program (to M.S.); NHMRC R.D. Wright Career Development Fellowship [1126877 to S.P.]; AstraZeneca (to S.P.); Jack Brockhoff Foundation [JBF 4186, 2016 to D.B.A.]; Newton Fund RCUK-CONFAP Grant awarded by the Medical Research Council (MRC) [MR/M026302/1 to D.B.A.]; National Health and Medical Research Council of Australia [APP1072476 to D.B.A.]; Department of Biochemistry and Molecular Biology, University of Melbourne [to M.S. and D.B.A.]. Funding for open access charge: MRC.