Rare variants

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 Access

    A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.

    • Konrad J. Karczewski
    • , Laurent C. Francioli
    • , Grace Tiao
    • , Beryl B. Cummings
    • , Jessica Alföldi
    • , Qingbo Wang
    • , Ryan L. Collins
    • , Kristen M. Laricchia
    • , Andrea Ganna
    • , Daniel P. Birnbaum
    • , Laura D. Gauthier
    • , Harrison Brand
    • , Matthew Solomonson
    • , Nicholas A. Watts
    • , Daniel Rhodes
    • , Moriel Singer-Berk
    • , Eleina M. England
    • , Eleanor G. Seaby
    • , Jack A. Kosmicki
    • , Raymond K. Walters
    • , Katherine Tashman
    • , Yossi Farjoun
    • , Eric Banks
    • , Timothy Poterba
    • , Arcturus Wang
    • , Cotton Seed
    • , Nicola Whiffin
    • , Jessica X. Chong
    • , Kaitlin E. Samocha
    • , Emma Pierce-Hoffman
    • , Zachary Zappala
    • , Anne H. O’Donnell-Luria
    • , Eric Vallabh Minikel
    • , Ben Weisburd
    • , Monkol Lek
    • , James S. Ware
    • , Christopher Vittal
    • , Irina M. Armean
    • , Louis Bergelson
    • , Kristian Cibulskis
    • , Kristen M. Connolly
    • , Miguel Covarrubias
    • , Stacey Donnelly
    • , Steven Ferriera
    • , Stacey Gabriel
    • , Jeff Gentry
    • , Namrata Gupta
    • , Thibault Jeandet
    • , Diane Kaplan
    • , Christopher Llanwarne
    • , Ruchi Munshi
    • , Sam Novod
    • , Nikelle Petrillo
    • , David Roazen
    • , Valentin Ruano-Rubio
    • , Andrea Saltzman
    • , Molly Schleicher
    • , Jose Soto
    • , Kathleen Tibbetts
    • , Charlotte Tolonen
    • , Gordon Wade
    • , Michael E. Talkowski
    • , Carlos A. Aguilar Salinas
    • , Tariq Ahmad
    • , Christine M. Albert
    • , Diego Ardissino
    • , Gil Atzmon
    • , John Barnard
    • , Laurent Beaugerie
    • , Emelia J. Benjamin
    • , Michael Boehnke
    • , Lori L. Bonnycastle
    • , Erwin P. Bottinger
    • , Donald W. Bowden
    • , Matthew J. Bown
    • , John C. Chambers
    • , Juliana C. Chan
    • , Daniel Chasman
    • , Judy Cho
    • , Mina K. Chung
    • , Bruce Cohen
    • , Adolfo Correa
    • , Dana Dabelea
    • , Mark J. Daly
    • , Dawood Darbar
    • , Ravindranath Duggirala
    • , Josée Dupuis
    • , Patrick T. Ellinor
    • , Roberto Elosua
    • , Jeanette Erdmann
    • , Tõnu Esko
    • , Martti Färkkilä
    • , Jose Florez
    • , Andre Franke
    • , Gad Getz
    • , Benjamin Glaser
    • , Stephen J. Glatt
    • , David Goldstein
    • , Clicerio Gonzalez
    • , Leif Groop
    • , Christopher Haiman
    • , Craig Hanis
    • , Matthew Harms
    • , Mikko Hiltunen
    • , Matti M. Holi
    • , Christina M. Hultman
    • , Mikko Kallela
    • , Jaakko Kaprio
    • , Sekar Kathiresan
    • , Bong-Jo Kim
    • , Young Jin Kim
    • , George Kirov
    • , Jaspal Kooner
    • , Seppo Koskinen
    • , Harlan M. Krumholz
    • , Subra Kugathasan
    • , Soo Heon Kwak
    • , Markku Laakso
    • , Terho Lehtimäki
    • , Ruth J. F. Loos
    • , Steven A. Lubitz
    • , Ronald C. W. Ma
    • , Daniel G. MacArthur
    • , Jaume Marrugat
    • , Kari M. Mattila
    • , Steven McCarroll
    • , Mark I. McCarthy
    • , Dermot McGovern
    • , Ruth McPherson
    • , James B. Meigs
    • , Olle Melander
    • , Andres Metspalu
    • , Benjamin M. Neale
    • , Peter M. Nilsson
    • , Michael C. O’Donovan
    • , Dost Ongur
    • , Lorena Orozco
    • , Michael J. Owen
    • , Colin N. A. Palmer
    • , Aarno Palotie
    • , Kyong Soo Park
    • , Carlos Pato
    • , Ann E. Pulver
    • , Nazneen Rahman
    • , Anne M. Remes
    • , John D. Rioux
    • , Samuli Ripatti
    • , Dan M. Roden
    • , Danish Saleheen
    • , Veikko Salomaa
    • , Nilesh J. Samani
    • , Jeremiah Scharf
    • , Heribert Schunkert
    • , Moore B. Shoemaker
    • , Pamela Sklar
    • , Hilkka Soininen
    • , Harry Sokol
    • , Tim Spector
    • , Patrick F. Sullivan
    • , Jaana Suvisaari
    • , E. Shyong Tai
    • , Yik Ying Teo
    • , Tuomi Tiinamaija
    • , Ming Tsuang
    • , Dan Turner
    • , Teresa Tusie-Luna
    • , Erkki Vartiainen
    • , James S. Ware
    • , Hugh Watkins
    • , Rinse K. Weersma
    • , Maija Wessman
    • , James G. Wilson
    • , Ramnik J. Xavier
    • , Benjamin M. Neale
    • , Mark J. Daly
    •  & Daniel G. MacArthur
    Nature 581, 434-443
  • Research
    | Open Access

    Gudjon Oskarsson et al. report a genome-wide association study of hemoglobin concentration in more than 680,000 individuals from Iceland and the UK. They identify six novel rare coding variants at the ACO1 locus that associate with either increased or decreased hemoglobin concentration, two of which have large and opposite effects.

    • Gudjon R. Oskarsson
    • , Asmundur Oddsson
    • , Magnus K. Magnusson
    • , Ragnar P. Kristjansson
    • , Gisli H. Halldorsson
    • , Egil Ferkingstad
    • , Florian Zink
    • , Anna Helgadottir
    • , Erna V. Ivarsdottir
    • , Gudny A. Arnadottir
    • , Brynjar O. Jensson
    • , Hildigunnur Katrinardottir
    • , Gardar Sveinbjornsson
    • , Anna M. Kristinsdottir
    • , Amy L. Lee
    • , Jona Saemundsdottir
    • , Lilja Stefansdottir
    • , Jon K. Sigurdsson
    • , Olafur B. Davidsson
    • , Stefania Benonisdottir
    • , Aslaug Jonasdottir
    • , Adalbjorg Jonasdottir
    • , Stefan Jonsson
    • , Reynir L. Gudmundsson
    • , Folkert W. Asselbergs
    • , Vinicius Tragante
    • , Bjarni Gunnarsson
    • , Gisli Masson
    • , Gudmar Thorleifsson
    • , Thorunn Rafnar
    • , Hilma Holm
    • , Isleifur Olafsson
    • , Pall T. Onundarson
    • , Daniel F. Gudbjartsson
    • , Gudmundur L. Norddahl
    • , Unnur Thorsteinsdottir
    • , Patrick Sulem
    •  & Kari Stefansson

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