Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 70,441 bioRxiv papers from 307,584 authors.
Recurrence of de novo mutations in families
Gudny A. Arnadottir,
Hannes P. Eggertsson,
Kristjan E. Hjorleifsson,
Brynjar Ö Jensson,
Sigurdur Einar Marelsson,
Sigurjon Axel Gudjonsson,
Simon N. Stacey,
Olafur Th. Magnusson,
Bjarni V. Halldorsson,
Daniel F. Gudbjartsson,
Posted 28 Nov 2017
bioRxiv DOI: 10.1101/221259 (published DOI: 10.1038/s41588-018-0259-9)
Posted 28 Nov 2017
De novo mutations (DNMs) cause a large fraction of severe rare diseases of childhood. DNMs that occur in early embryos may result in mosaicism of both somatic and germ cells. Such early mutations may be transmitted to more than one offspring and cause recurrence of serious disease. We scanned 1,007 sibling pairs from 251 families and identified 885 DNMs shared by siblings (ssDNMs) at 451 genomic sites. We estimated the probability of DNM recurrence based on presence in the blood of the parent, sharing by other siblings, parent-of-origin, mutation type, and genomic position. We detected 52.1% of ssDNMs in the parental blood. The probability of a DNM being shared goes down by 2.28% per year for paternal DNMs and 1.82% for maternal DNMs. Shared paternal DNMs are more likely to be T>C mutations than maternal ones, but less likely to be C>T mutations. Depending on DNM properties, the probability of recurrence in a younger sibling ranges from 0.013% to 29.6%. We have launched an online DNM recurrence probability calculator, to use in genetic counselling in cases of rare genetic diseases.
- Downloaded 1,790 times
- Download rankings, all-time:
- Site-wide: 3,108 out of 70,446
- In genomics: 608 out of 4,710
- Year to date:
- Site-wide: 60,627 out of 70,446
- Since beginning of last month:
- Site-wide: 43,006 out of 70,446
Downloads over time
Distribution of downloads per paper, site-wide
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!