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Mark J. Daly
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12
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:
A harmonized public resource of deeply sequenced diverse human genomes
Zan Koenig
,
Mary T. Yohannes
,
Lethukuthula L. Nkambule
,
Xuefang Zhao
,
Julia K. Goodrich
,
Heesu Ally Kim
,
Michael W. Wilson
,
Grace Tiao
,
Stephanie P. Hao
,
Nareh Sahakian
,
Katherine R. Chao
,
Mark A. Walker
,
Yunfei Lyu
,
gnomAD Project Consortium
,
Heidi L. Rehm
,
Benjamin M. Neale
,
Michael E. Talkowski
,
Mark J. Daly
,
Harrison Brand
,
Konrad J. Karczewski
,
Elizabeth G. Atkinson
,
and
Alicia R. Martin
Genome Res.
May 2024
34
:
796
-
809
;
Published in Advance
May 15, 2024
,
doi:
10.1101/gr.278378.123
Abstract
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Resource
:
Discordant calls across genotype discovery approaches elucidate variants with systematic errors
Elizabeth G. Atkinson
,
Mykyta Artomov
,
Alexander A. Loboda
,
Heidi L. Rehm
,
Daniel G. MacArthur
,
Konrad J. Karczewski
,
Benjamin M. Neale
,
and
Mark J. Daly
Genome Res.
May 30, 2023
;
Published in Advance
May 30, 2023
,
doi:
10.1101/gr.277908.123
Abstract
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Method
:
Identification of pathogenic variant enriched regions across genes and gene families
Eduardo Pérez-Palma
,
Patrick May
,
Sumaiya Iqbal
,
Lisa-Marie Niestroj
,
Juanjiangmeng Du
,
Henrike O. Heyne
,
Jessica A. Castrillon
,
Anne O'Donnell-Luria
,
Peter Nürnberg
,
Aarno Palotie
,
Mark Daly
,
and
Dennis Lal
Genome Res.
January 2020
30
:
62
-
71
;
Published in Advance
December 23, 2019
,
doi:
10.1101/gr.252601.119
Abstract
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Research
:
Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides
Sidi Zhang
,
Kaitlin E. Samocha
,
Manuel A. Rivas
,
Konrad J. Karczewski
,
Emma Daly
,
Ben Schmandt
,
Benjamin M. Neale
,
Daniel G. MacArthur
,
and
Mark J. Daly
Genome Res.
July 2018
28
:
968
-
974
;
Published in Advance
June 1, 2018
,
doi:
10.1101/gr.231902.117
Abstract
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Research
:
Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging
Ida Surakka
,
Kati Kristiansson
,
Verneri Anttila
,
Michael Inouye
,
Chris Barnes
,
Loukas Moutsianas
,
Veikko Salomaa
,
Mark Daly
,
Aarno Palotie
,
Leena Peltonen
,
and
Samuli Ripatti
Genome Res.
October 2010
20
:
1344
-
1351
;
Published in Advance
September 1, 2010
,
doi:
10.1101/gr.106534.110
Abstract
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:
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna
,
Matthew Hanna
,
Eric Banks
,
Andrey Sivachenko
,
Kristian Cibulskis
,
Andrew Kernytsky
,
Kiran Garimella
,
David Altshuler
,
Stacey Gabriel
,
Mark Daly
,
and
Mark A. DePristo
Genome Res.
September 2010
20
:
1297
-
1303
;
Published in Advance
July 19, 2010
,
doi:
10.1101/gr.107524.110
Abstract
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RESOURCE
:
Whole population, genome-wide mapping of hidden relatedness
Alexander Gusev
,
Jennifer K. Lowe
,
Markus Stoffel
,
Mark J. Daly
,
David Altshuler
,
Jan L. Breslow
,
Jeffrey M. Friedman
,
and
Itsik Pe'er
Genome Res.
February 2009
19
:
318
-
326
;
Published in Advance
October 29, 2008
,
doi:
10.1101/gr.081398.108
Abstract
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LETTER
:
A survey of allelic imbalance in F1 mice
Catarina D. Campbell
,
Andrew Kirby
,
James Nemesh
,
Mark J. Daly
,
and
Joel N. Hirschhorn
Genome Res.
April 2008
18
:
555
-
563
;
Published in Advance
February 6, 2008
,
doi:
10.1101/gr.068692.107
Abstract
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RESOURCE
:
A molecular-properties-based approach to understanding PDZ domain proteins and PDZ ligands
Cosmas Giallourakis
,
Zhifang Cao
,
Todd Green
,
Heather Wachtel
,
Xiaohui Xie
,
Marco Lopez-Illasaca
,
Mark Daly
,
John Rioux
,
and
Ramnik Xavier
Genome Res.
August 2006
16
:
1056
-
1072
;
Published in Advance
July 6, 2006
,
doi:
10.1101/gr.5285206
Abstract
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Methods
:
Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)
Gregory E. Crawford
,
Ingeborg E. Holt
,
James Whittle
,
Bryn D. Webb
,
Denise Tai
,
Sean Davis
,
Elliott H. Margulies
,
YiDong Chen
,
John A. Bernat
,
David Ginsburg
,
Daixing Zhou
,
Shujun Luo
,
Thomas J. Vasicek
,
Mark J. Daly
,
Tyra G. Wolfsberg
,
and
Francis S. Collins
Genome Res.
January 2006
16
:
123
-
131
;
Published in Advance
December 12, 2005
,
doi:
10.1101/gr.4074106
Abstract
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