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Burke et al. 22 (8): 1549
.
Displaying results 1-10 of
58
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Method
:
Iterative improvement of deep learning models using synthetic regulatory genomics
André M. Ribeiro-dos-Santos
and
Matthew T. Maurano
Genome Res.
November 2025
35
:
2539
-
2549
;
Published in Advance
October 22, 2025
,
doi:
10.1101/gr.280540.125
...the reference, such as disease- and
trait
-associated variants or engineered sequences. Recent work has applied
synthetic
regulatory genomics to characterized dozens of deletions, inversions, and rearrangements of DNase I hypersensitive sites (DHSs). Here, we use the state-of-the-art model Enformer to predict...
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Resource
:
Genetic dissection of a model complex trait using the
Drosophila
Synthetic Population Resource
Elizabeth G. King
,
Chris M. Merkes
,
Casey L. McNeil
,
Steven R. Hoofer
,
Saunak Sen
,
Karl W. Broman
,
Anthony D. Long
,
and
Stuart J. Macdonald
Genome Res.
August 2012
22
:
1558
-
1566
;
Published in Advance
April 10, 2012
,
doi:
10.1101/gr.134031.111
...Genetic
dissection
of a model complex
trait
using the Drosophila
Synthetic
Population
Resource Elizabeth G. King 1 , Chris M. Merkes 2 , Casey L. McNeil 2 , Steven R. Hoofer 2 , Saunak Sen 3 , Karl W. Broman 4 , Anthony D...
Abstract
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Method
:
ML-MAGES enables multivariate genetic association analyses with genes and effect size shrinkage
Xiran Liu
,
Lorin Crawford
,
and
Sohini Ramachandran
Genome Res.
December 2025
35
:
2691
-
2700
;
Published in Advance
November 19, 2025
,
doi:
10.1101/gr.280440.125
...frequency on the variance through heterozygosity, a factor w controlling the dependence of variance on LD score of the variants, the proportion of SNPs designated as causal, and the narrow-sense heritability of a
synthetic
trait
(see Supplemental Methods S1.4). We then simulated
synthetic
trait
values using...
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Research
:
Heritability and genetic basis of protein level variation in an outbred population
Leopold Parts
,
Yi-Chun Liu
,
Manu M. Tekkedil
,
Lars M. Steinmetz
,
Amy A. Caudy
,
Andrew G. Fraser
,
Charles Boone
,
Brenda J. Andrews
,
and
Adam P. Rosebrock
Genome Res.
August 2014
24
:
1363
-
1370
;
Published in Advance
May 13, 2014
,
doi:
10.1101/gr.170506.113
...regions in which the RM allele frequency was at least 20% different between the GFP low and high
populations
and defined these as protein level quantitative
trait
loci (pQTLs; false discovery rate = 22%) (Supplemental Table 7; Supplemental Fig. 7; Methods). For a subset of
traits
, we identified...
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Research
:
Functional genomics analysis of developing zebrafish and human endoderm reveals highly conserved
cis
-regulatory modules acting during vertebrate organogenesis
Daniela M Riley
,
Randa Elsayed
,
Mark D Walsh
,
Simaran Johal
,
Ying Lin
,
Harry Walton
,
Till Bretschneider
,
Sascha Ott
,
and
Andrew C Nelson
Genome Res.
March 4, 2026
gr.280838.125
;
Published in Advance
March 4, 2026
,
doi:
10.1101/gr.280838.125
...are superficially diverse, they share key commonalities in terms of 23 overall morphology, and organ configuration and function. Maintenance of these
traits
during 24 evolution is partially explained by conservation of critical genes governing embryonic 25 development. However, for conserved genes to deliver...
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Method
:
Uncovering methylation-dependent genetic effects on regulatory element function in diverse genomes
Rachel M. Petersen
,
Christopher M. Vockley
,
and
Amanda J. Lea
Genome Res.
August 2025
35
:
1781
-
1793
;
Published in Advance
July 14, 2025
,
doi:
10.1101/gr.279957.124
...
traits
, which at the molecular level often involves complex interactions between genetic variants, the epi, and gene expression. DNA methylation (DNAm) refers to the addition of methyl groups to cytosine bases, usually within CpG dinucleotide contexts (the most commonly methylated motif in mammals). DNAm...
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Research
:
Genetic analysis of complex traits in the emerging Collaborative Cross
David L. Aylor
,
William Valdar
,
Wendy Foulds-Mathes
,
Ryan J. Buus
,
Ricardo A. Verdugo
,
Ralph S. Baric
,
Martin T. Ferris
,
Jeff A. Frelinger
,
Mark Heise
,
Matt B. Frieman
,
Lisa E. Gralinski
,
Timothy A. Bell
,
John D. Didion
,
Kunjie Hua
,
Derrick L. Nehrenberg
,
Christine L. Powell
,
Jill Steigerwalt
,
Yuying Xie
,
Samir N.P. Kelada
,
Francis S. Collins
,
Ivana V. Yang
,
David A. Schwartz
,
Lisa A. Branstetter
,
Elissa J. Chesler
,
Darla R. Miller
,
Jason Spence
,
Eric Yi Liu
,
Leonard McMillan
,
Abhishek Sarkar
,
Jeremy Wang
,
Wei Wang
,
Qi Zhang
,
Karl W. Broman
,
Ron Korstanje
,
Caroline Durrant
,
Richard Mott
,
Fuad A. Iraqi
,
Daniel Pomp
,
David Threadgill
,
Fernando Pardo-Manuel de Villena
,
and
Gary A. Churchill
Genome Res.
August 2011
21
:
1213
-
1222
;
Published in Advance
March 15, 2011
,
doi:
10.1101/gr.111310.110
...; baseline body weight, a
trait
known to be highly polygenic; and liver mRNA expression profile. Thus, we highlight results from three types of
traits
–Mendelian, complex, and molecular. An ancestry-based approach proved superior to marker-based methods for mapping QTL in the pre-CC
population
...
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Research
:
Genic and nongenic contributions to natural variation of quantitative traits in maize
Xianran Li
,
Chengsong Zhu
,
Cheng-Ting Yeh
,
Wei Wu
,
Elizabeth M. Takacs
,
Katherine A. Petsch
,
Feng Tian
,
Guihua Bai
,
Edward S. Buckler
,
Gary J. Muehlbauer
,
Marja C.P. Timmermans
,
Michael J. Scanlon
,
Patrick S. Schnable
,
and
Jianming Yu
Genome Res.
December 2012
22
:
2436
-
2444
;
Published in Advance
June 14, 2012
,
doi:
10.1101/gr.140277.112
...and Yu 2007; Riedelsheimer et al. 2012), and NAMGWAS scan (Tian et al. 2011) represented some new contributions to complex
trait
dissection
and selection in plants, many of which are facing similar challenges. The maize NAM
population
consists of 5000 RILs derived from crossing 26 diverse founders...
Abstract
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Review
:
A systematic guide for identifying transcription factors that directly regulate the expression of a gene of interest
Andrew D. Bates
,
Dawid Grzela
,
Maciej Studzian
,
Louise Brennan
,
Moli Williams
,
Conor Fawcett
,
Beth Hammond
,
Manreen Grewal
,
Marcin Ratajewski
,
Lukasz Pulaski
,
and
Urszula L. McClurg
Genome Res.
March 2026
36
:
433
-
459
;
Published in Advance
February 17, 2026
,
doi:
10.1101/gr.281154.125
..., and cell state–dependent protein dynamics. In this review, we
dissect
the strengths, limitations, and biological relevance of current approaches for studying direct protein–DNA interactions, distinguishing between protein-centric and DNA-centric methodologies. We introduce a conceptual matrix of biological...
Abstract
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Review
:
Population genetic inference from genomic sequence variation
John E. Pool
,
Ines Hellmann
,
Jeffrey D. Jensen
,
and
Rasmus Nielsen
Genome Res.
March 2010
20
:
291
-
300
;
Published in Advance
January 12, 2010
,
doi:
10.1101/gr.079509.108
...
Population
genetic inference from genomic sequence variation John E. Pool 1 , 2 , Ines Hellmann 3 , Jeffrey D. Jensen 1 , 5 and Rasmus Nielsen 1 , 4 , 6 1 Department of Integrative Biology, University of California, Berkeley...
Abstract
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