Researcher
Konrad Karczewski
Massachusetts General Hospital
Statistics
33 papers found
All papers authored by Konrad Karczewski
Refreshing results…
,
Eric Minikel,
Roddy Walsh ,
Anne H. O'Donnell-Luria ,
Konrad Karczewski ,
Ay Ing,
Pjr Barton ,
Birgit Funke,
Sa Cook ,
Dg MacArthur,
Js Ware
Using high-resolution variant frequencies to empower clinical genome interpretation
Download from www.nature.com
,
Michael R. Barnes,
Anthony H. Barnett,
Chris Bates,
Srikanth Bellary,
Nicholas A. Bockett,
Kristina Giorda,
Christopher J. Griffiths,
Harry Hemingway,
Zhilong Jia,
M. Ann Kelly
and 22 other authors
Health and population effects of rare gene knockouts in adult humans with related parents
Download from science.sciencemag.org
,
Steven R. DePalma,
David McKean,
James S. Ware ,
Hiroko Wakimoto,
Josh Gorham,
Sheng Chih Jin,
John Deanfield,
Alessandro Giardini,
G. A. Porter
and 28 other authors
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Download from hdl.handle.net
,
Aaron R. Quinlan
Efficient genotype compression and analysis of large genetic-variation data sets
Download from nrs.harvard.edu
,
Chanel Wong,
Maede Mohebnasab,
Eyas Mukhtar,
Randy Phillips
and 53 other authors
Download from dx.doi.org
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Download from dx.doi.org
,
Jie Huang,
Lucy Crooks,
Yasin Memari,
Nicole Soranzo Production group Senduran Bala
and 263 other authors
The UK10K project identifies rare variants in health and disease
Download from www.nature.com
,
Zach Zappala,
David A. Knowles,
Kevin S. Smith,
Kim R. Kukurba,
Eric Wu,
Noah Simon,
Stephen B. Montgomery
Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants
Download from doi.org
,
Eric R. Gamazon ,
Ben Burkley,
Larisa H. Cavallari,
Julie A. Johnson,
Teri E. Klein,
Nita Limdi,
Sara Hillenmeyer,
Bethany Percha,
Konrad J. Karczewski ,
Taimour Langaee,
Shitalben R. Patel,
Carlos D. Bustamante,
Russ B. Altman,
Minoli A. Perera
Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans
Download from www.bloodjournal.org
,
Pi de Bakker,
Wei Guo,
Mr Barnes,
Nora Franceschini,
Sk Ganesh,
Toby Johnson ,
Mb Lanktree,
Sandosh Padmanabhan,
En Smith,
Berta Almoguera,
John Barnard
and 131 other authors
Download from doi.org
,
Guy Haskin Fernald,
Alicia R. Martin,
Michael Snyder,
Nicholas P. Tatonetti ,
Joel T. Dudley
STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud
Download from dx.doi.org
,
Karczewski Kj,
Sandosh Padmanabhan,
Florianne Bauer,
Jens Baumert,
Amber Beitelshees,
Berenson Gs,
Gerald S. Berenson
and 95 other authors
Download from academic.oup.com
A New System for Comparative Functional Genomics of Saccharomyces Yeasts
Download from www.genetics.org
,
Konrad J. Karczewski ,
Hersh Sagreiya,
Stephane Bourgeois,
Katarzyna Drozda,
James K. Burmester,
Tatsuhiko Tsunoda,
Yusuke Nakamura,
Michiaki Kubo,
Matthew Tector,
Nita A. Limdi,
Larisa H. Cavallari,
Minoli Perera,
Julie A. Johnson
and 2 other authors
Pathway analysis of genome-wide data improves warfarin dose prediction
Download from doi.org
,
Joel T. Dudley,
Kimberly R. Kukurba,
Rong Chen,
Atul J. Butte,
Stephen B. Montgomery,
Michael Snyder
Systematic functional regulatory assessment of disease-associated variants
Download from www.pnas.org
,
Stephen B. Montgomery
Performance of genomic medicine
Download from dx.doi.org
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