Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 73,850 bioRxiv papers from 321,349 authors.

Measuring "intolerance to mutation" in human genetics

By Zachary L. Fuller, Jeremy J. Berg, Hakhamanesh Mostafavi, Guy Sella, Molly Przeworski

Posted 01 Aug 2018
bioRxiv DOI: 10.1101/382481 (published DOI: 10.1038/s41588-019-0383-1)

In numerous applications, from working with animal models to mapping the genetic basis of human disease susceptibility, it is useful to know whether a single disrupting mutation in a gene is likely to be deleterious. With this goal in mind, a number of measures have been developed to identify genes in which protein-truncating variants (PTVs), or other types of mutations, are absent or kept at very low frequency in large numbers of healthy individuals--genes that appear "intolerant to mutation". One measure in particular, pLI, has been widely adopted. By contrasting the observed versus expected number of PTVs, it aims to classify genes into three categories, labelled "null", "recessive" and "haploinsufficient". Here we discuss how pLI and similar measures relate to population genetic parameters and why they reflect the strength of selection acting on heterozygotes, rather than dominance or haploinsufficiency.

Download data

  • Downloaded 1,736 times
  • Download rankings, all-time:
    • Site-wide: 3,482 out of 73,850
    • In genetics: 288 out of 4,049
  • Year to date:
    • Site-wide: 10,394 out of 73,850
  • Since beginning of last month:
    • Site-wide: 10,394 out of 73,850

Altmetric data


Downloads over time

Distribution of downloads per paper, site-wide


PanLingua

Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News