Rare variants

Definition

Rare variants are alternative forms of a gene that are present with a minor allele frequency (MAF) of less than 1%.

Latest Research and Reviews

  • Research | | open

    Obsessive-compulsive disorder (OCD) is a neuropsychiatric disorder with symptoms including intrusive thoughts and time-consuming repetitive behaviors. Here Noh and colleagues identify genes enriched for functional variants associated with increased risk of OCD.

    • Hyun Ji Noh
    • , Ruqi Tang
    • , Jason Flannick
    • , Colm O’Dushlaine
    • , Ross Swofford
    • , Daniel Howrigan
    • , Diane P. Genereux
    • , Jeremy Johnson
    • , Gerard van Grootheest
    • , Edna Grünblatt
    • , Erik Andersson
    • , Diana R. Djurfeldt
    • , Paresh D. Patel
    • , Michele Koltookian
    • , Christina M. Hultman
    • , Michele T. Pato
    • , Carlos N. Pato
    • , Steven A. Rasmussen
    • , Michael A. Jenike
    • , Gregory L. Hanna
    • , S. Evelyn Stewart
    • , James A. Knowles
    • , Stephan Ruhrmann
    • , Hans-Jörgen Grabe
    • , Michael Wagner
    • , Christian Rück
    • , Carol A. Mathews
    • , Susanne Walitza
    • , Daniëlle C. Cath
    • , Guoping Feng
    • , Elinor K. Karlsson
    •  & Kerstin Lindblad-Toh
  • Research |

    Whole-genome sequencing data of 14,688 Icelanders, including 1,548 parent–offspring trios, show how the age and sex of parents affect the rate and spectrum of de novo mutations.

    • Hákon Jónsson
    • , Patrick Sulem
    • , Birte Kehr
    • , Snaedis Kristmundsdottir
    • , Florian Zink
    • , Eirikur Hjartarson
    • , Marteinn T. Hardarson
    • , Kristjan E. Hjorleifsson
    • , Hannes P. Eggertsson
    • , Sigurjon Axel Gudjonsson
    • , Lucas D. Ward
    • , Gudny A. Arnadottir
    • , Einar A. Helgason
    • , Hannes Helgason
    • , Arnaldur Gylfason
    • , Adalbjorg Jonasdottir
    • , Aslaug Jonasdottir
    • , Thorunn Rafnar
    • , Mike Frigge
    • , Simon N. Stacey
    • , Olafur Th. Magnusson
    • , Unnur Thorsteinsdottir
    • , Gisli Masson
    • , Augustine Kong
    • , Bjarni V. Halldorsson
    • , Agnar Helgason
    • , Daniel F. Gudbjartsson
    •  & Kari Stefansson
    Nature 549, 519–522
  • Research | | open

    • Hákon Jónsson
    • , Patrick Sulem
    • , Birte Kehr
    • , Snaedis Kristmundsdottir
    • , Florian Zink
    • , Eirikur Hjartarson
    • , Marteinn T. Hardarson
    • , Kristjan E. Hjorleifsson
    • , Hannes P. Eggertsson
    • , Sigurjon Axel Gudjonsson
    • , Lucas D. Ward
    • , Gudny A. Arnadottir
    • , Einar A. Helgason
    • , Hannes Helgason
    • , Arnaldur Gylfason
    • , Adalbjorg Jonasdottir
    • , Aslaug Jonasdottir
    • , Thorunn Rafnar
    • , Soren Besenbacher
    • , Michael L. Frigge
    • , Simon N. Stacey
    • , Olafur Th. Magnusson
    • , Unnur Thorsteinsdottir
    • , Gisli Masson
    • , Augustine Kong
    • , Bjarni V. Halldorsson
    • , Agnar Helgason
    • , Daniel F. Gudbjartsson
    •  & Kari Stefansson
    Scientific Data 4, 170115

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