Konrad J Karczewski

Affiliations

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.

ORCID: http://orcid.org/0000-0003-2878-4671

Publications (21)

A structural variation reference for medical and population genetics.

Nature

Avec: Ryan L Collins , Harrison Brand , Konrad J Karczewski , Xuefang Zhao , Jessica Alföldi , Laurent C Francioli , Amit V Khera , Chelsea Lowther , Laura D Gauthier , Harold Wang , Nicholas A Watts , Matthew Solomonson , Anne O'Donnell-Luria , Alexander Baumann , Ruchi Munshi , Mark Walker , Christopher W Whelan , Yongqing Huang , Ted Brookings , Ted Sharpe , Matthew R Stone , Elise Valkanas , Jack Fu , Grace Tiao , Kristen M Laricchia , Valentin Ruano-Rubio , Christine Stevens , Namrata Gupta , Caroline Cusick , Lauren Margolin , Auteur inconnu , Auteur inconnu , Kent D Taylor , Henry J Lin , Stephen S Rich , Wendy S Post , Yii-Der Ida Chen , Jerome I Rotter , Chad Nusbaum , Anthony Philippakis , Eric Lander , Stacey Gabriel , Benjamin M Neale , Sekar Kathiresan , Mark J Daly , Eric Banks , Daniel G MacArthur , Michael E Talkowski

Evaluating drug targets through human loss-of-function genetic variation.

Nature

Avec: Eric Vallabh Minikel , Konrad J Karczewski , Hilary C Martin , Beryl B Cummings , Nicola Whiffin , Daniel Rhodes , Jessica Alföldi , Richard C Trembath , David A van Heel , Mark J Daly , Auteur inconnu , Auteur inconnu , Stuart L Schreiber , Daniel G MacArthur

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes.

BioData mining

Avec: Abdulrahman Alasiri , Konrad J Karczewski , Brian Cole , Bao-Li Loza , Jason H Moore , Sander W van der Laan , Folkert W Asselbergs , Brendan J Keating , Jessica van Setten

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.

Cell genomics

Avec: Konrad J Karczewski , Matthew Solomonson , Katherine R Chao , Julia K Goodrich , Grace Tiao , Wenhan Lu , Bridget M Riley-Gillis , Ellen A Tsai , Hye In Kim , Xiuwen Zheng , Fedik Rahimov , Sahar Esmaeeli , A Jason Grundstad , Mark Reppell , Jeff Waring , Howard Jacob , David Sexton , Paola G Bronson , Xing Chen , Xinli Hu , Jacqueline I Goldstein , Daniel King , Christopher Vittal , Timothy Poterba , Duncan S Palmer , Claire Churchhouse , Daniel P Howrigan , Wei Zhou , Nicholas A Watts , Kevin Nguyen , Huy Nguyen , Cara Mason , Christopher Farnham , Charlotte Tolonen , Laura D Gauthier , Namrata Gupta , Daniel G MacArthur , Heidi L Rehm , Cotton Seed , Anthony A Philippakis , Mark J Daly , J Wade Davis , Heiko Runz , Melissa R Miller , Benjamin M Neale

Mono- and biallelic variant effects on disease at biobank scale.

Nature

Avec: H O Heyne , J Karjalainen , K J Karczewski , S M Lemmelä , W Zhou , Auteur inconnu , A S Havulinna , M Kurki , H L Rehm , A Palotie , M J Daly

The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes.

bioRxiv : the preprint server for biology

Avec: Timothy Poterba , Christopher Vittal , Daniel King , Daniel Goldstein , Jacqueline I Goldstein , Patrick Schultz , Konrad J Karczewski , Cotton Seed , Benjamin M Neale

Inferring compound heterozygosity from large-scale exome sequencing data.

Nature genetics

Avec: Michael H Guo , Laurent C Francioli , Sarah L Stenton , Julia K Goodrich , Nicholas A Watts , Moriel Singer-Berk , Emily Groopman , Philip W Darnowsky , Matthew Solomonson , Samantha Baxter , Auteur inconnu , Grace Tiao , Benjamin M Neale , Joel N Hirschhorn , Heidi L Rehm , Mark J Daly , Anne O'Donnell-Luria , Konrad J Karczewski , Daniel G MacArthur , Kaitlin E Samocha

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

PLoS genetics

Avec: Manuel A Rivas , Brandon E Avila , Jukka Koskela , Hailiang Huang , Christine Stevens , Matti Pirinen , Talin Haritunians , Benjamin M Neale , Mitja Kurki , Andrea Ganna , Daniel Graham , Benjamin Glaser , Inga Peter , Gil Atzmon , Nir Barzilai , Adam P Levine , Elena Schiff , Nikolas Pontikos , Ben Weisburd , Monkol Lek , Konrad J Karczewski , Jonathan Bloom , Eric V Minikel , Britt-Sabina Petersen , Laurent Beaugerie , Philippe Seksik , Jacques Cosnes , Stefan Schreiber , Bernd Bokemeyer , Johannes Bethge , Auteur inconnu , Auteur inconnu , Auteur inconnu , Graham Heap , Tariq Ahmad , Vincent Plagnol , Anthony W Segal , Stephan Targan , Dan Turner , Paivi Saavalainen , Martti Farkkila , Kimmo Kontula , Aarno Palotie , Steven R Brant , Richard H Duerr , Mark S Silverberg , John D Rioux , Rinse K Weersma , Andre Franke , Luke Jostins , Carl A Anderson , Jeffrey C Barrett , Daniel G MacArthur , Chaim Jalas , Harry Sokol , Ramnik J Xavier , Ann Pulver , Judy H Cho , Dermot P B McGovern , Mark J Daly

The mutational constraint spectrum quantified from variation in 141,456 humans.

Nature

Avec: 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 , Auteur inconnu , Benjamin M Neale , Mark J Daly , Daniel G MacArthur

The effect of LRRK2 loss-of-function variants in humans.

Nature medicine

Avec: Nicola Whiffin , Irina M Armean , Aaron Kleinman , Jamie L Marshall , Eric V Minikel , Julia K Goodrich , Nicholas M Quaife , Joanne B Cole , Qingbo Wang , Konrad J Karczewski , Beryl B Cummings , Laurent Francioli , Kristen Laricchia , Anna Guan , Babak Alipanahi , Peter Morrison , Marco A S Baptista , Kalpana M Merchant , Auteur inconnu , Auteur inconnu , James S Ware , Aki S Havulinna , Bozenna Iliadou , Jung-Jin Lee , Girish N Nadkarni , Cole Whiteman , Auteur inconnu , Mark Daly , Tõnu Esko , Christina Hultman , Ruth J F Loos , Lili Milani , Aarno Palotie , Carlos Pato , Michele Pato , Danish Saleheen , Patrick F Sullivan , Jessica Alföldi , Paul Cannon , Daniel G MacArthur

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell stem cell

Avec: Florian T Merkle , Sulagna Ghosh , Giulio Genovese , Robert E Handsaker , Seva Kashin , Daniel Meyer , Konrad J Karczewski , Colm O'Dushlaine , Carlos Pato , Michele Pato , Daniel G MacArthur , Steven A McCarroll , Kevin Eggan

SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests.

Nature genetics

Avec: Wei Zhou , Wenjian Bi , Zhangchen Zhao , Kushal K Dey , Karthik A Jagadeesh , Konrad J Karczewski , Mark J Daly , Benjamin M Neale , Seunggeun Lee

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.

medRxiv : the preprint server for health sciences

Avec: Moriel Singer-Berk , Sanna Gudmundsson , Samantha Baxter , Eleanor G Seaby , Eleina England , Jordan C Wood , Rachel G Son , Nicholas A Watts , Konrad J Karczewski , Steven M Harrison , Daniel G MacArthur , Heidi L Rehm , Anne O'Donnell-Luria

A harmonized public resource of deeply sequenced diverse human genomes.

bioRxiv : the preprint server for biology

Avec: Zan Koenig , Mary T Yohannes , Lethukuthula L Nkambule , Julia K Goodrich , Heesu Ally Kim , Xuefang Zhao , Michael W Wilson , Grace Tiao , Stephanie P Hao , Nareh Sahakian , Katherine R Chao , Auteur inconnu , Heidi L Rehm , Benjamin M Neale , Michael E Talkowski , Mark J Daly , Harrison Brand , Konrad J Karczewski , Elizabeth G Atkinson , Alicia R Martin

Discordant calls across genotype discovery approaches elucidate variants with systematic errors.

Genome research

Avec: Elizabeth G Atkinson , Mykyta Artomov , Alexander A Loboda , Heidi L Rehm , Daniel G MacArthur , Konrad J Karczewski , Benjamin M Neale , Mark J Daly

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.

American journal of human genetics

Hematologic setpoints are a stable and patient-specific deep phenotype.

medRxiv : the preprint server for health sciences

Avec: Brody H Foy , Rachel Petherbridge , Maxwell Roth , Christopher Mow , Hasmukh R Patel , Chhaya H Patel , Samantha N Ho , Evie Lam , Konrad J Karczewski , Veronica Tozzo , John M Higgins

Population based frequency of naturally occurring loss-of-function variants in genes associated with platelet disorders.

Journal of thrombosis and haemostasis : JTH

Avec: Joseph H Oved , Michele P Lambert , M Anna Kowalska , Mortimer Poncz , Konrad J Karczewski

Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.

Blood advances

Avec: Joseph H Oved , Daria V Babushok , Michele P Lambert , Nicole Wolfset , M Anna Kowalska , Mortimer Poncz , Konrad J Karczewski , Timothy S Olson

Human genetic analyses of organelles highlight the nucleus in age-related trait heritability.

eLife

Avec: Rahul Gupta , Konrad J Karczewski , Daniel Howrigan , Benjamin M Neale , Vamsi K Mootha

A genomic mutational constraint map using variation in 76,156 human genomes.

Nature

Avec: Siwei Chen , Laurent C Francioli , Julia K Goodrich , Ryan L Collins , Masahiro Kanai , Qingbo Wang , Jessica Alföldi , Nicholas A Watts , Christopher Vittal , Laura D Gauthier , Timothy Poterba , Michael W Wilson , Yekaterina Tarasova , William Phu , Riley Grant , Mary T Yohannes , Zan Koenig , Yossi Farjoun , Eric Banks , Stacey Donnelly , Stacey Gabriel , Namrata Gupta , Steven Ferriera , Charlotte Tolonen , Sam Novod , Louis Bergelson , David Roazen , Valentin Ruano-Rubio , Miguel Covarrubias , Christopher Llanwarne , Nikelle Petrillo , Gordon Wade , Thibault Jeandet , Ruchi Munshi , Kathleen Tibbetts , Auteur inconnu , Anne O'Donnell-Luria , Matthew Solomonson , Cotton Seed , Alicia R Martin , Michael E Talkowski , Heidi L Rehm , Mark J Daly , Grace Tiao , Benjamin M Neale , Daniel G MacArthur , Konrad J Karczewski

Réseau de co-auteurs

None None 15 collaborations

Daniel G MacArthur 12 collaborations

Benjamin M Neale 11 collaborations

Mark J Daly 10 collaborations

Nicholas A Watts 7 collaborations

Heidi L Rehm 7 collaborations

Grace Tiao 6 collaborations

Jessica Alföldi 5 collaborations

Matthew Solomonson 5 collaborations

Anne O'Donnell-Luria 5 collaborations

Julia K Goodrich 5 collaborations

Laurent C Francioli 4 collaborations

Laura D Gauthier 4 collaborations

Namrata Gupta 4 collaborations

Michael E Talkowski 4 collaborations

Christopher Vittal 4 collaborations

Timothy Poterba 4 collaborations

Cotton Seed 4 collaborations

Moriel Singer-Berk 4 collaborations

Ryan L Collins 3 collaborations

Harrison Brand 3 collaborations

Ruchi Munshi 3 collaborations

Valentin Ruano-Rubio 3 collaborations

Stacey Gabriel 3 collaborations

Eric Banks 3 collaborations

Beryl B Cummings 3 collaborations

Nicola Whiffin 3 collaborations

Charlotte Tolonen 3 collaborations

Samantha Baxter 3 collaborations

Qingbo Wang 3 collaborations

Eleanor G Seaby 3 collaborations

Xuefang Zhao 2 collaborations

Kristen M Laricchia 2 collaborations

Christine Stevens 2 collaborations

Eric Vallabh Minikel 2 collaborations

Daniel Rhodes 2 collaborations

Katherine R Chao 2 collaborations

Jacqueline I Goldstein 2 collaborations

Daniel King 2 collaborations

Wei Zhou 2 collaborations

Kaitlin E Samocha 2 collaborations

Andrea Ganna 2 collaborations

Ben Weisburd 2 collaborations

Monkol Lek 2 collaborations

Eric V Minikel 2 collaborations

Aarno Palotie 2 collaborations

Yossi Farjoun 2 collaborations

James S Ware 2 collaborations

Irina M Armean 2 collaborations

Louis Bergelson 2 collaborations

Miguel Covarrubias 2 collaborations

Stacey Donnelly 2 collaborations

Steven Ferriera 2 collaborations

Thibault Jeandet 2 collaborations

Christopher Llanwarne 2 collaborations

Sam Novod 2 collaborations

Nikelle Petrillo 2 collaborations

David Roazen 2 collaborations

Kathleen Tibbetts 2 collaborations

Gordon Wade 2 collaborations

Carlos Pato 2 collaborations

Michele Pato 2 collaborations

Sanna Gudmundsson 2 collaborations

Eleina England 2 collaborations

Jordan C Wood 2 collaborations

Rachel G Son 2 collaborations

Steven M Harrison 2 collaborations

Zan Koenig 2 collaborations

Mary T Yohannes 2 collaborations

Michael W Wilson 2 collaborations

Elizabeth G Atkinson 2 collaborations

Alicia R Martin 2 collaborations

Joseph H Oved 2 collaborations

Michele P Lambert 2 collaborations

M Anna Kowalska 2 collaborations

Mortimer Poncz 2 collaborations

Amit V Khera 1 collaboration

Chelsea Lowther 1 collaboration

Harold Wang 1 collaboration

Alexander Baumann 1 collaboration

Mark Walker 1 collaboration

Christopher W Whelan 1 collaboration

Yongqing Huang 1 collaboration

Ted Brookings 1 collaboration

Ted Sharpe 1 collaboration

Matthew R Stone 1 collaboration

Elise Valkanas 1 collaboration

Jack Fu 1 collaboration

Caroline Cusick 1 collaboration

Lauren Margolin 1 collaboration

Kent D Taylor 1 collaboration

Henry J Lin 1 collaboration

Stephen S Rich 1 collaboration

Wendy S Post 1 collaboration

Yii-Der Ida Chen 1 collaboration

Jerome I Rotter 1 collaboration

Chad Nusbaum 1 collaboration

Anthony Philippakis 1 collaboration

Eric Lander 1 collaboration

Sekar Kathiresan 1 collaboration

Hilary C Martin 1 collaboration

Richard C Trembath 1 collaboration

David A van Heel 1 collaboration

Stuart L Schreiber 1 collaboration

Abdulrahman Alasiri 1 collaboration

Brian Cole 1 collaboration

Bao-Li Loza 1 collaboration

Jason H Moore 1 collaboration

Sander W van der Laan 1 collaboration

Folkert W Asselbergs 1 collaboration

Brendan J Keating 1 collaboration

Jessica van Setten 1 collaboration

Wenhan Lu 1 collaboration

Bridget M Riley-Gillis 1 collaboration

Ellen A Tsai 1 collaboration

Hye In Kim 1 collaboration

Xiuwen Zheng 1 collaboration

Fedik Rahimov 1 collaboration

Sahar Esmaeeli 1 collaboration

A Jason Grundstad 1 collaboration

Mark Reppell 1 collaboration

Jeff Waring 1 collaboration

Howard Jacob 1 collaboration

David Sexton 1 collaboration

Paola G Bronson 1 collaboration

Xing Chen 1 collaboration

Xinli Hu 1 collaboration

Duncan S Palmer 1 collaboration

Claire Churchhouse 1 collaboration

Daniel P Howrigan 1 collaboration

Kevin Nguyen 1 collaboration

Huy Nguyen 1 collaboration

Cara Mason 1 collaboration

Christopher Farnham 1 collaboration

Anthony A Philippakis 1 collaboration

J Wade Davis 1 collaboration

Heiko Runz 1 collaboration

Melissa R Miller 1 collaboration

H O Heyne 1 collaboration

J Karjalainen 1 collaboration

K J Karczewski 1 collaboration

S M Lemmelä 1 collaboration

W Zhou 1 collaboration

A S Havulinna 1 collaboration

M Kurki 1 collaboration

H L Rehm 1 collaboration

A Palotie 1 collaboration

M J Daly 1 collaboration

Daniel Goldstein 1 collaboration

Patrick Schultz 1 collaboration

Michael H Guo 1 collaboration

Sarah L Stenton 1 collaboration

Emily Groopman 1 collaboration

Philip W Darnowsky 1 collaboration

Joel N Hirschhorn 1 collaboration

Manuel A Rivas 1 collaboration

Brandon E Avila 1 collaboration

Jukka Koskela 1 collaboration

Hailiang Huang 1 collaboration

Matti Pirinen 1 collaboration

Talin Haritunians 1 collaboration

Mitja Kurki 1 collaboration

Daniel Graham 1 collaboration

Benjamin Glaser 1 collaboration

Inga Peter 1 collaboration

Gil Atzmon 1 collaboration

Nir Barzilai 1 collaboration

Adam P Levine 1 collaboration

Elena Schiff 1 collaboration

Nikolas Pontikos 1 collaboration

Jonathan Bloom 1 collaboration

Britt-Sabina Petersen 1 collaboration

Laurent Beaugerie 1 collaboration

Philippe Seksik 1 collaboration

Jacques Cosnes 1 collaboration

Stefan Schreiber 1 collaboration

Bernd Bokemeyer 1 collaboration

Johannes Bethge 1 collaboration

Graham Heap 1 collaboration

Tariq Ahmad 1 collaboration

Vincent Plagnol 1 collaboration

Anthony W Segal 1 collaboration

Stephan Targan 1 collaboration

Dan Turner 1 collaboration

Paivi Saavalainen 1 collaboration

Martti Farkkila 1 collaboration

Kimmo Kontula 1 collaboration

Steven R Brant 1 collaboration

Richard H Duerr 1 collaboration

Mark S Silverberg 1 collaboration

John D Rioux 1 collaboration

Rinse K Weersma 1 collaboration

Andre Franke 1 collaboration

Luke Jostins 1 collaboration

Carl A Anderson 1 collaboration

Jeffrey C Barrett 1 collaboration

Chaim Jalas 1 collaboration

Harry Sokol 1 collaboration

Ramnik J Xavier 1 collaboration

Ann Pulver 1 collaboration

Judy H Cho 1 collaboration

Dermot P B McGovern 1 collaboration

Daniel P Birnbaum 1 collaboration

Eleina M England 1 collaboration

Jack A Kosmicki 1 collaboration

Raymond K Walters 1 collaboration

Katherine Tashman 1 collaboration

Arcturus Wang 1 collaboration

Jessica X Chong 1 collaboration

Emma Pierce-Hoffman 1 collaboration

Zachary Zappala 1 collaboration

Anne H O'Donnell-Luria 1 collaboration

Kristian Cibulskis 1 collaboration

Kristen M Connolly 1 collaboration

Jeff Gentry 1 collaboration

Diane Kaplan 1 collaboration

Andrea Saltzman 1 collaboration

Molly Schleicher 1 collaboration

Jose Soto 1 collaboration

Aaron Kleinman 1 collaboration

Jamie L Marshall 1 collaboration

Nicholas M Quaife 1 collaboration

Joanne B Cole 1 collaboration

Laurent Francioli 1 collaboration

Kristen Laricchia 1 collaboration

Anna Guan 1 collaboration

Babak Alipanahi 1 collaboration

Peter Morrison 1 collaboration

Marco A S Baptista 1 collaboration

Kalpana M Merchant 1 collaboration

Aki S Havulinna 1 collaboration

Bozenna Iliadou 1 collaboration

Jung-Jin Lee 1 collaboration

Girish N Nadkarni 1 collaboration

Cole Whiteman 1 collaboration

Mark Daly 1 collaboration

Tõnu Esko 1 collaboration

Christina Hultman 1 collaboration

Ruth J F Loos 1 collaboration

Lili Milani 1 collaboration

Danish Saleheen 1 collaboration

Patrick F Sullivan 1 collaboration

Paul Cannon 1 collaboration

Florian T Merkle 1 collaboration

Sulagna Ghosh 1 collaboration

Giulio Genovese 1 collaboration

Robert E Handsaker 1 collaboration

Seva Kashin 1 collaboration

Daniel Meyer 1 collaboration

Colm O'Dushlaine 1 collaboration

Steven A McCarroll 1 collaboration

Kevin Eggan 1 collaboration

Wenjian Bi 1 collaboration

Zhangchen Zhao 1 collaboration

Kushal K Dey 1 collaboration

Karthik A Jagadeesh 1 collaboration

Seunggeun Lee 1 collaboration

Lethukuthula L Nkambule 1 collaboration

Heesu Ally Kim 1 collaboration

Stephanie P Hao 1 collaboration

Nareh Sahakian 1 collaboration

Mykyta Artomov 1 collaboration

Alexander A Loboda 1 collaboration

Brody H Foy 1 collaboration

Rachel Petherbridge 1 collaboration

Maxwell Roth 1 collaboration

Christopher Mow 1 collaboration

Hasmukh R Patel 1 collaboration

Chhaya H Patel 1 collaboration

Samantha N Ho 1 collaboration

Evie Lam 1 collaboration

Veronica Tozzo 1 collaboration

John M Higgins 1 collaboration

Daria V Babushok 1 collaboration

Nicole Wolfset 1 collaboration

Timothy S Olson 1 collaboration

Rahul Gupta 1 collaboration

Daniel Howrigan 1 collaboration

Vamsi K Mootha 1 collaboration

Siwei Chen 1 collaboration

Masahiro Kanai 1 collaboration

Yekaterina Tarasova 1 collaboration

William Phu 1 collaboration

Riley Grant 1 collaboration