Xia Kun

Genetic predictors with clinical utility

Latest Research

  • Article |

    De novo mutations in MSL3 cause an X-linked syndrome affecting both males and females. MSL3 mutations reduce H4K16ac levels and lead to misregulation of cellular pathways involved in morphogenesis, cellular shape, and cell migration.

    • M. Felicia Basilicata
    • , Ange-Line Bruel
    • , Giuseppe Semplicio
    • , Claudia Isabelle Keller Valsecchi
    • , Tuğçe Aktaş
    • , Yannis Duffourd
    • , Tobias Rumpf
    • , Jenny Morton
    • , Iben Bache
    • , Witold G. Szymanski
    • , Christian Gilissen
    • , Olivier Vanakker
    • , Katrin Õunap
    • , Gerhard Mittler
    • , Ineke van der Burgt
    • , Salima El Chehadeh
    • , Megan T. Cho
    • , Rolph Pfundt
    • , Tiong Yang Tan
    • , Maria Kirchhoff
    • , Björn Menten
    • , Sarah Vergult
    • , Kristin Lindstrom
    • , André Reis
    • , Diana S. Johnson
    • , Alan Fryer
    • , Victoria McKay
    • , Richard B. Fisher
    • , Christel Thauvin-Robinet
    • , David Francis
    • , Tony Roscioli
    • , Sander Pajusalu
    • , Kelly Radtke
    • , Jaya Ganesh
    • , Han G. Brunner
    • , Meredith Wilson
    • , Laurence Faivre
    • , Vera M. Kalscheuer
    • , Julien Thevenon
    •  & Asifa Akhtar
  • Letter |

    Large-scale loss-of-function screens and TP53 saturation mutagenesis screens in human cancer cell lines suggest that mutational processes combine with phenotypic selection to shape the landscape of somatic mutations at the TP53 locus.

    • Andrew O. Giacomelli
    • , Xiaoping Yang
    • , Robert E. Lintner
    • , James M. McFarland
    • , Marc Duby
    • , Jaegil Kim
    • , Thomas P. Howard
    • , David Y. Takeda
    • , Seav Huong Ly
    • , Eejung Kim
    • , Hugh S. Gannon
    • , Brian Hurhula
    • , Ted Sharpe
    • , Amy Goodale
    • , Briana Fritchman
    • , Scott Steelman
    • , Francisca Vazquez
    • , Aviad Tsherniak
    • , Andrew J. Aguirre
    • , John G. Doench
    • , Federica Piccioni
    • , Charles W. M. Roberts
    • , Matthew Meyerson
    • , Gad Getz
    • , Cory M. Johannessen
    • , David E. Root
    •  & William C. Hahn
  • Letter |

    Promoter capture Hi-C in colorectal cancer cells integrated with cancer genome and expression data identifies a noncoding, cis-regulatory element that is recurrently mutated in cancer, affecting ETV1 expression, cell viability and patient survival.

    • Giulia Orlando
    • , Philip J. Law
    • , Alex J. Cornish
    • , Sara E. Dobbins
    • , Daniel Chubb
    • , Peter Broderick
    • , Kevin Litchfield
    • , Fadi Hariri
    • , Tomi Pastinen
    • , Cameron S. Osborne
    • , Jussi Taipale
    •  & Richard S. Houlston
  • Article |

    Analyses of 3,514 whole-genome-sequenced individuals from Sardinia indicate that within-island substructure and sex-biased processes have impacted the genetic history of Sardinia, providing new insight into the demography of ancestral Sardinians.

    • Charleston W. K. Chiang
    • , Joseph H. Marcus
    • , Carlo Sidore
    • , Arjun Biddanda
    • , Hussein Al-Asadi
    • , Magdalena Zoledziewska
    • , Maristella Pitzalis
    • , Fabio Busonero
    • , Andrea Maschio
    • , Giorgio Pistis
    • , Maristella Steri
    • , Andrea Angius
    • , Kirk E. Lohmueller
    • , Goncalo R. Abecasis
    • , David Schlessinger
    • , Francesco Cucca
    •  & John Novembre
  • Article |

    Analysis of bivalent promoters in embryonic stem cells (ESCs) shows that deletion of MLL2 in ESCs leads to increased Polycomb occupancy, reduced promoter accessibility, redistribution of long-range chromatin interactions, and failure to differentiate.

    • Glòria Mas
    • , Enrique Blanco
    • , Cecilia Ballaré
    • , Miriam Sansó
    • , Yannick G. Spill
    • , Deqing Hu
    • , Yuki Aoi
    • , François Le Dily
    • , Ali Shilatifard
    • , Marc A. Marti-Renom
    •  & Luciano Di Croce
  • Article |

    Association analyses in over 1 million individuals identify 535 new loci influencing blood pressure traits. The results provide new insights into blood pressure regulation and highlight shared genetic architecture between blood pressure and lifestyle exposures.

    • Evangelos Evangelou
    • , Helen R. Warren
    • , David Mosen-Ansorena
    • , Borbala Mifsud
    • , Raha Pazoki
    • , He Gao
    • , Georgios Ntritsos
    • , Niki Dimou
    • , Claudia P. Cabrera
    • , Ibrahim Karaman
    • , Fu Liang Ng
    • , Marina Evangelou
    • , Katarzyna Witkowska
    • , Evan Tzanis
    • , Jacklyn N. Hellwege
    • , Ayush Giri
    • , Digna R. Velez Edwards
    • , Yan V. Sun
    • , Kelly Cho
    • , J. Michael Gaziano
    • , Peter W. F. Wilson
    • , Philip S. Tsao
    • , Csaba P. Kovesdy
    • , Tonu Esko
    • , Reedik Mägi
    • , Lili Milani
    • , Peter Almgren
    • , Thibaud Boutin
    • , Stéphanie Debette
    • , Jun Ding
    • , Franco Giulianini
    • , Elizabeth G. Holliday
    • , Anne U. Jackson
    • , Ruifang Li-Gao
    • , Wei-Yu Lin
    • , Jian’an Luan
    • , Massimo Mangino
    • , Christopher Oldmeadow
    • , Bram Peter Prins
    • , Yong Qian
    • , Muralidharan Sargurupremraj
    • , Nabi Shah
    • , Praveen Surendran
    • , Sébastien Thériault
    • , Niek Verweij
    • , Sara M. Willems
    • , Jing-Hua Zhao
    • , Philippe Amouyel
    • , John Connell
    • , Renée de Mutsert
    • , Alex S. F. Doney
    • , Martin Farrall
    • , Cristina Menni
    • , Andrew D. Morris
    • , Raymond Noordam
    • , Guillaume Paré
    • , Neil R. Poulter
    • , Denis C. Shields
    • , Alice Stanton
    • , Simon Thom
    • , Gonçalo Abecasis
    • , Najaf Amin
    • , Dan E. Arking
    • , Kristin L. Ayers
    • , Caterina M. Barbieri
    • , Chiara Batini
    • , Joshua C. Bis
    • , Tineka Blake
    • , Murielle Bochud
    • , Michael Boehnke
    • , Eric Boerwinkle
    • , Dorret I. Boomsma
    • , Erwin P. Bottinger
    • , Peter S. Braund
    • , Marco Brumat
    • , Archie Campbell
    • , Harry Campbell
    • , Aravinda Chakravarti
    • , John C. Chambers
    • , Ganesh Chauhan
    • , Marina Ciullo
    • , Massimiliano Cocca
    • , Francis Collins
    • , Heather J. Cordell
    • , Gail Davies
    • , Martin H. de Borst
    • , Eco J. de Geus
    • , Ian J. Deary
    • , Joris Deelen
    • , Fabiola Del Greco M.
    • , Cumhur Yusuf Demirkale
    • , Marcus Dörr
    • , Georg B. Ehret
    • , Roberto Elosua
    • , Stefan Enroth
    • , A. Mesut Erzurumluoglu
    • , Teresa Ferreira
    • , Mattias Frånberg
    • , Oscar H. Franco
    • , Ilaria Gandin
    • , Paolo Gasparini
    • , Vilmantas Giedraitis
    • , Christian Gieger
    • , Giorgia Girotto
    • , Anuj Goel
    • , Alan J. Gow
    • , Vilmundur Gudnason
    • , Xiuqing Guo
    • , Ulf Gyllensten
    • , Anders Hamsten
    • , Tamara B. Harris
    • , Sarah E. Harris
    • , Catharina A. Hartman
    • , Aki S. Havulinna
    • , Andrew A. Hicks
    • , Edith Hofer
    • , Albert Hofman
    • , Jouke-Jan Hottenga
    • , Jennifer E. Huffman
    • , Shih-Jen Hwang
    • , Erik Ingelsson
    • , Alan James
    • , Rick Jansen
    • , Marjo-Riitta Jarvelin
    • , Roby Joehanes
    • , Åsa Johansson
    • , Andrew D. Johnson
    • , Peter K. Joshi
    • , Pekka Jousilahti
    • , J. Wouter Jukema
    • , Antti Jula
    • , Mika Kähönen
    • , Sekar Kathiresan
    • , Bernard D. Keavney
    • , Kay-Tee Khaw
    • , Paul Knekt
    • , Joanne Knight
    • , Ivana Kolcic
    • , Jaspal S. Kooner
    • , Seppo Koskinen
    • , Kati Kristiansson
    • , Zoltan Kutalik
    • , Maris Laan
    • , Marty Larson
    • , Lenore J. Launer
    • , Benjamin Lehne
    • , Terho Lehtimäki
    • , David C. M. Liewald
    • , Li Lin
    • , Lars Lind
    • , Cecilia M. Lindgren
    • , YongMei Liu
    • , Ruth J. F. Loos
    • , Lorna M. Lopez
    • , Yingchang Lu
    • , Leo-Pekka Lyytikäinen
    • , Anubha Mahajan
    • , Chrysovalanto Mamasoula
    • , Jaume Marrugat
    • , Jonathan Marten
    • , Yuri Milaneschi
    • , Anna Morgan
    • , Andrew P. Morris
    • , Alanna C. Morrison
    • , Peter J. Munson
    • , Mike A. Nalls
    • , Priyanka Nandakumar
    • , Christopher P. Nelson
    • , Teemu Niiranen
    • , Ilja M. Nolte
    • , Teresa Nutile
    • , Albertine J. Oldehinkel
    • , Ben A. Oostra
    • , Paul F. O’Reilly
    • , Elin Org
    • , Sandosh Padmanabhan
    • , Walter Palmas
    • , Aarno Palotie
    • , Alison Pattie
    • , Brenda W. J. H. Penninx
    • , Markus Perola
    • , Annette Peters
    • , Ozren Polasek
    • , Peter P. Pramstaller
    • , Quang Tri Nguyen
    • , Olli T. Raitakari
    • , Meixia Ren
    • , Rainer Rettig
    • , Kenneth Rice
    • , Paul M. Ridker
    • , Janina S. Ried
    • , Harriëtte Riese
    • , Samuli Ripatti
    • , Antonietta Robino
    • , Lynda M. Rose
    • , Jerome I. Rotter
    • , Igor Rudan
    • , Daniela Ruggiero
    • , Yasaman Saba
    • , Cinzia F. Sala
    • , Veikko Salomaa
    • , Nilesh J. Samani
    • , Antti-Pekka Sarin
    • , Reinhold Schmidt
    • , Helena Schmidt
    • , Nick Shrine
    • , David Siscovick
    • , Albert V. Smith
    • , Harold Snieder
    • , Siim Sõber
    • , Rossella Sorice
    • , John M. Starr
    • , David J. Stott
    • , David P. Strachan
    • , Rona J. Strawbridge
    • , Johan Sundström
    • , Morris A. Swertz
    • , Kent D. Taylor
    • , Alexander Teumer
    • , Martin D. Tobin
    • , Maciej Tomaszewski
    • , Daniela Toniolo
    • , Michela Traglia
    • , Stella Trompet
    • , Jaakko Tuomilehto
    • , Christophe Tzourio
    • , André G. Uitterlinden
    • , Ahmad Vaez
    • , Peter J. van der Most
    • , Cornelia M. van Duijn
    • , Anne-Claire Vergnaud
    • , Germaine C. Verwoert
    • , Veronique Vitart
    • , Uwe Völker
    • , Peter Vollenweider
    • , Dragana Vuckovic
    • , Hugh Watkins
    • , Sarah H. Wild
    • , Gonneke Willemsen
    • , James F. Wilson
    • , Alan F. Wright
    • , Jie Yao
    • , Tatijana Zemunik
    • , Weihua Zhang
    • , John R. Attia
    • , Adam S. Butterworth
    • , Daniel I. Chasman
    • , David Conen
    • , Francesco Cucca
    • , John Danesh
    • , Caroline Hayward
    • , Joanna M. M. Howson
    • , Markku Laakso
    • , Edward G. Lakatta
    • , Claudia Langenberg
    • , Olle Melander
    • , Dennis O. Mook-Kanamori
    • , Colin N. A. Palmer
    • , Lorenz Risch
    • , Robert A. Scott
    • , Rodney J. Scott
    • , Peter Sever
    • , Tim D. Spector
    • , Pim van der Harst
    • , Nicholas J. Wareham
    • , Eleftheria Zeggini
    • , Daniel Levy
    • , Patricia B. Munroe
    • , Christopher Newton-Cheh
    • , Morris J. Brown
    • , Andres Metspalu
    • , Adriana M. Hung
    • , Christopher J. O’Donnell
    • , Todd L. Edwards
    • , Bruce M. Psaty
    • , Ioanna Tzoulaki
    • , Michael R. Barnes
    • , Louise V. Wain
    • , Paul Elliott
    •  & Mark J. Caulfield

News & Comment

  • News & Views |

    A new study uncovers novel copy number signatures in ovarian cancer genomes. This work sheds light on mutational processes driving ovarian cancer, reveals the distribution of copy number features across the patient population and identifies new genomic properties related to treatment response.

    • Sohrab P. Shah
  • Editorial |

    Precision genomic medicine is now technically feasible. Just as global positioning systems revolutionized the logistics of travel, so genome-wide polygenic risk scores (GPSs) now have the potential to inform our trajectories of health and to serve in the prevention and mitigation of many common and complex diseases. We welcome research into the implementation of—and equity of access to—genetic predictors and their integration into clinical and evidence-based medical practice.

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