Recurrence of de novo mutations in families
Hákon Jónsson, Patrick Sulem, Gudny Anna Arnadottir, Gunnar Pálsson, Hannes P. Eggertsson, Snædís Kristmundsdóttir, Florian Zink, Birte Kehr, Kristján Eldjárn Hjörleifsson, Brynjar Ö. Jensson, Ingileif Jónsdóttir, S Marelsson, Sigurjon Axel Gudjonsson, Arnaldur Gylfason, Aðalbjörg Jónasdóttir, , Kāri Stefánsson
The paper identifies recurrent de novo mutations in sibling pairs and estimates their recurrence probabilities based on various factors.
Nature Genetics · Oct 31, 2018Peer-reviewedGenomics