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Table of Contents
May 2013; 23 (5)
Research
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The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes
Stephen B. Montgomery
,
David L. Goode
,
Erika Kvikstad
,
Cornelis A. Albers
,
Zhengdong D. Zhang
,
Xinmeng Jasmine Mu
,
Guruprasad Ananda
,
Bryan Howie
,
Konrad J. Karczewski
,
Kevin S. Smith
,
Vanessa Anaya
,
Rhea Richardson
,
Joe Davis
,
The 1000 Genomes Project Consortium
,
Daniel G. MacArthur
,
Arend Sidow
,
Laurent Duret
,
Mark Gerstein
,
Kateryna D. Makova
,
Jonathan Marchini
,
Gil McVean
,
and
Gerton Lunter
Genome Res.
May 2013
23
:
749
-
761
;
Published in Advance
March 11, 2013
,
doi:
10.1101/gr.148718.112
Abstract
Full Text
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Supplemental Material
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Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms
Ankit Malhotra
,
Michael Lindberg
,
Gregory G. Faust
,
Mitchell L. Leibowitz
,
Royden A. Clark
,
Ryan M. Layer
,
Aaron R. Quinlan
,
and
Ira M. Hall
Genome Res.
May 2013
23
:
762
-
776
;
Published in Advance
February 14, 2013
,
doi:
10.1101/gr.143677.112
Abstract
Full Text
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Patterns of regulatory activity across diverse human cell types predict tissue identity, transcription factor binding, and long-range interactions
Nathan C. Sheffield
,
Robert E. Thurman
,
Lingyun Song
,
Alexias Safi
,
John A. Stamatoyannopoulos
,
Boris Lenhard
,
Gregory E. Crawford
,
and
Terrence S. Furey
Genome Res.
May 2013
23
:
777
-
788
;
Published in Advance
March 12, 2013
,
doi:
10.1101/gr.152140.112
Abstract
Full Text
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DNA-methylation effect on cotranscriptional splicing is dependent on GC architecture of the exon–intron structure
Sahar Gelfman
,
Noa Cohen
,
Ahuvi Yearim
,
and
Gil Ast
Genome Res.
May 2013
23
:
789
-
799
;
Published in Advance
March 15, 2013
,
doi:
10.1101/gr.143503.112
Abstract
Full Text
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Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay
Pouya Kheradpour
,
Jason Ernst
,
Alexandre Melnikov
,
Peter Rogov
,
Li Wang
,
Xiaolan Zhang
,
Jessica Alston
,
Tarjei S. Mikkelsen
,
and
Manolis Kellis
Genome Res.
May 2013
23
:
800
-
811
;
Published in Advance
March 19, 2013
,
doi:
10.1101/gr.144899.112
Abstract
Full Text
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Widespread and extensive lengthening of 3′ UTRs in the mammalian brain
Pedro Miura
,
Sol Shenker
,
Celia Andreu-Agullo
,
Jakub O. Westholm
,
and
Eric C. Lai
Genome Res.
May 2013
23
:
812
-
825
;
Published in Advance
March 21, 2013
,
doi:
10.1101/gr.146886.112
Abstract
Full Text
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Methods
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Sequencing of isolated sperm cells for direct haplotyping of a human genome
Ewen F. Kirkness
,
Rashel V. Grindberg
,
Joyclyn Yee-Greenbaum
,
Christian R. Marshall
,
Stephen W. Scherer
,
Roger S. Lasken
,
and
J. Craig Venter
Genome Res.
May 2013
23
:
826
-
832
;
Published in Advance
January 2, 2013
,
doi:
10.1101/gr.144600.112
Abstract
Full Text
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An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data
Yi Wang
,
James Lu
,
Jin Yu
,
Richard A. Gibbs
,
and
Fuli Yu
Genome Res.
May 2013
23
:
833
-
842
;
Published in Advance
January 7, 2013
,
doi:
10.1101/gr.146084.112
Abstract
Full Text
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Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
Joseph B. Hiatt
,
Colin C. Pritchard
,
Stephen J. Salipante
,
Brian J. O'Roak
,
and
Jay Shendure
Genome Res.
May 2013
23
:
843
-
854
;
Published in Advance
February 4, 2013
,
doi:
10.1101/gr.147686.112
Abstract
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Whole-genome sequences of
Chlamydia trachomatis
directly from clinical samples without culture
Helena M.B. Seth-Smith
,
Simon R. Harris
,
Rachel J. Skilton
,
Frans M. Radebe
,
Daniel Golparian
,
Elena Shipitsyna
,
Pham Thanh Duy
,
Paul Scott
,
Lesley T. Cutcliffe
,
Colette O’Neill
,
Surendra Parmar
,
Rachel Pitt
,
Stephen Baker
,
Catherine A. Ison
,
Peter Marsh
,
Hamid Jalal
,
David A. Lewis
,
Magnus Unemo
,
Ian N. Clarke
,
Julian Parkhill
,
and
Nicholas R. Thomson
Genome Res.
May 2013
23
:
855
-
866
;
Published in Advance
March 22, 2013
,
doi:
10.1101/gr.150037.112
Abstract
Full Text
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Genome of the pathogen
Porphyromonas gingivalis
recovered from a biofilm in a hospital sink using a high-throughput single-cell genomics platform
Jeffrey S. McLean
,
Mary-Jane Lombardo
,
Michael G. Ziegler
,
Mark Novotny
,
Joyclyn Yee-Greenbaum
,
Jonathan H. Badger
,
Glenn Tesler
,
Sergey Nurk
,
Valery Lesin
,
Daniel Brami
,
Adam P. Hall
,
Anna Edlund
,
Lisa Z. Allen
,
Scott Durkin
,
Sharon Reed
,
Francesca Torriani
,
Kenneth H. Nealson
,
Pavel A. Pevzner
,
Robert Friedman
,
J. Craig Venter
,
and
Roger S. Lasken
Genome Res.
May 2013
23
:
867
-
877
;
Published in Advance
April 5, 2013
,
doi:
10.1101/gr.150433.112
Abstract
Full Text
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Nearly finished genomes produced using gel microdroplet culturing reveal substantial intraspecies genomic diversity within the human microbiome
Michael S. Fitzsimons
,
Mark Novotny
,
Chien-Chi Lo
,
Armand E.K. Dichosa
,
Joyclyn L. Yee-Greenbaum
,
Jeremy P. Snook
,
Wei Gu
,
Olga Chertkov
,
Karen W. Davenport
,
Kim McMurry
,
Krista G. Reitenga
,
Ashlynn R. Daughton
,
Jian He
,
Shannon L. Johnson
,
Cheryl D. Gleasner
,
Patti L. Wills
,
Beverly Parson-Quintana
,
Patrick S. Chain
,
John C. Detter
,
Roger S. Lasken
,
and
Cliff S. Han
Genome Res.
May 2013
23
:
878
-
888
;
Published in Advance
March 14, 2013
,
doi:
10.1101/gr.142208.112
Abstract
Full Text
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Resource
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PRISM offers a comprehensive genomic approach to transcription factor function prediction
Aaron M. Wenger
,
Shoa L. Clarke
,
Harendra Guturu
,
Jenny Chen
,
Bruce T. Schaar
,
Cory Y. McLean
,
and
Gill Bejerano
Genome Res.
May 2013
23
:
889
-
904
;
Published in Advance
February 4, 2013
,
doi:
10.1101/gr.139071.112
Abstract
Full Text
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Erratum
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Erratum
Genome Res.
May 2013
23
:
905
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May 2013;
23
(5)
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