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Ng and Henikoff 11 (5): 863
.
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268
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Method
:
Greater strength of selection and higher proportion of beneficial amino acid changing mutations in humans compared with mice and
Drosophila melanogaster
Ying Zhen
,
Christian D. Huber
,
Robert W. Davies
,
and
Kirk E. Lohmueller
Genome Res.
January 2021
31
:
110
-
120
;
Published in Advance
November 18, 2020
,
doi:
10.1101/gr.256636.119
...), despite the use of different analytical approaches. α is expected to be lower on the human lineage compared with the chimpanzee or macaque lineage owing to the higher proportion of weakly
deleterious
amino
acid
substitutions
on the human lineage to their smaller population size (Ohta 1973, 1992). For D...
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Resource
:
The SynMall resource for characterizing the functional impact of synonymous variation
Chen Ye
,
Xiaoyan Li
,
Na Cheng
,
Yansen Su
,
and
Junfeng Xia
Genome Res.
February 2026
36
:
421
-
431
;
Published in Advance
December 17, 2025
,
doi:
10.1101/gr.281257.125
...with synVep (Zeng et al. 2021), in which mRNA stability features show limited
predictive
power. At the protein level, pseudo-K-tuple-reduced
amino
acid composition (PseKRAAC) and absolute solvent accessibility differ between pathogenic and benign variants (Fig. 2D), consistent with findings from reg...
Abstract
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LETTER
:
Hitchhiking effects of recurrent beneficial amino acid substitutions in the
Drosophila melanogaster
genome
Peter Andolfatto
Genome Res.
December 2007
17
:
1755
-
1762
;
Published in Advance
November 7, 2007
,
doi:
10.1101/gr.6691007
...
predict
a similar correlation between levels of synonymous diversity and rates of
amino
acid evolution. Results Reduced synonymous site diversity at rapidly evolving proteins To detect
predicted
hitchhiking effects associated with recurrent fixation of beneficial
amino
acid
substitutions
, I surveyed...
Abstract
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Method
:
Gene duplication is associated with gene diversification and potential neofunctionalization in lung cancer evolution
Paul Ashford
,
Alexander M. Frankell
,
Zofia Piszka
,
Camilla S.M. Pang
,
Mahnaz Abbasian
,
Maise Al Bakir
,
Mariam Jamal-Hanjani
,
Nicholas McGranahan
,
Charles Swanton
,
and
Christine A. Orengo
Genome Res.
March 2026
36
:
561
-
577
;
Published in Advance
February 19, 2026
,
doi:
10.1101/gr.278663.123
...functional diversification during evolution. In this study, we seek to identify the diversification and potential gene neofunctionalization of lung tumors in the TRACERx cohort. We develop a novel computational protocol to identify preduplication and postduplication mutations
predicted
to affect protein...
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Method
:
Predicted protein 3D structures provide essential insights into the genetic architecture underlying phenotypic diversity in maize
Shuai Wang
,
Merritt Khaipho-Burch
,
Lynn C. Johnson
,
Zachary R. Miller
,
Peter J. Bradbury
,
Doug Speed
,
William J. Allen
,
M. Cinta Romay
,
Jiquan Xue
,
Edward S. Buckler
,
Guillaume P. Ramstein
,
and
Baoxing Song
Genome Res.
January 2026
36
:
214
-
225
;
Published in Advance
October 31, 2025
,
doi:
10.1101/gr.280514.125
...line B73 and the 25 other NAM founder lines. Whether AlphaFold2 can
predict
the effects of single
amino
-acid polymorphisms (SAPs) is controversial (Stein and Mchaourab 2024), so we first compared the protein sequence from the same core pangene group to characterize the sequence diversity of orthologous...
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Research
:
Common
cis
-regulatory variation modifies the penetrance of pathogenic
SHROOM3
variants in craniofacial microsomia
Hao Zhu
,
Jiao Zhang
,
Soumya Rao
,
Matthew D. Durbin
,
Ying Li
,
Ruirui Lang
,
Jiqiang Liu
,
Baichuan Xiao
,
Hailin Shan
,
Ziqiu Meng
,
Jinmo Wang
,
Xiaokai Tang
,
Zhenni Shi
,
Liza L. Cox
,
Shouqin Zhao
,
Stephanie M. Ware
,
Tiong Y. Tan
,
Michelle de Silva
,
Lyndon Gallacher
,
Ting Liu
,
Jie Mi
,
Changqing Zeng
,
Hou-Feng Zheng
,
Qingguo Zhang
,
Stylianos E. Antonarakis
,
Timothy C. Cox
,
and
Yong-Biao Zhang
Genome Res.
May 2025
35
:
1065
-
1079
;
Published in Advance
April 15, 2025
,
doi:
10.1101/gr.280047.124
..., 2625 healthy Chinese individuals from the SG10K data set (Wu et al. 2019). Previous association studies had identified several CFM-related risk genes (Zhang et al. 2016; Xu et al. 2021). Initially, we focused our efforts on interrogating the
predicted
deleterious
variants within risk genes directly...
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Research
:
Predicting the virulence of MRSA from its genome sequence
Maisem Laabei
,
Mario Recker
,
Justine K. Rudkin
,
Mona Aldeljawi
,
Zeynep Gulay
,
Tim J. Sloan
,
Paul Williams
,
Jennifer L. Endres
,
Kenneth W. Bayles
,
Paul D. Fey
,
Vijaya Kumar Yajjala
,
Todd Widhelm
,
Erica Hawkins
,
Katie Lewis
,
Sara Parfett
,
Lucy Scowen
,
Sharon J. Peacock
,
Matthew Holden
,
Daniel Wilson
,
Timothy D. Read
,
Jean van den Elsen
,
Nicholas K. Priest
,
Edward J. Feil
,
Laurence D. Hurst
,
Elisabet Josefsson
,
and
Ruth C. Massey
Genome Res.
May 2014
24
:
839
-
849
;
Published in Advance
April 9, 2014
,
doi:
10.1101/gr.165415.113
...
Predicting
the virulence of MRSA from its genome sequence Maisem Laabei 1 , 11 , Mario Recker 2 , 11 , Justine K. Rudkin 1 , Mona Aldeljawi 1 , Zeynep Gulay 3 , Tim J. Sloan 4 , Paul Williams 4 , Jennifer L...
Abstract
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Methods
:
Identification of deleterious mutations within three human genomes
Sung Chun
and
Justin C. Fay
Genome Res.
September 2009
19
:
1553
-
1561
;
Published in Advance
July 14, 2009
,
doi:
10.1101/gr.092619.109
...for the association. A number of methods have been developed to identify
deleterious
and/or disease-causing mutations within protein-coding sequences. These methods
predict
whether an
amino
acid altering mutation is
deleterious
or disease causing based on physicochemical properties (Grantham1974), population...
Abstract
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Research
:
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease
Claudio Casola
,
Ugne Zekonyte
,
Andrew D. Phillips
,
David N. Cooper
,
and
Matthew W. Hahn
Genome Res.
March 2012
22
:
429
-
435
;
Published in Advance
November 16, 2011
,
doi:
10.1101/gr.127738.111
...-associatedmutations in;1% of analyzed human genes. In addition, we
predict
thousands of potential IGC-mediated
amino
acid replacements with
deleterious
effects in almost 900 different human genes, 158 of which have already been implicated in human disease. Results and Discussion Pathological mutations derived from...
Abstract
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Research
:
Genome-wide patterns of selection–drift variation strongly associate with organismal traits across the green plant lineage
Kavitha Uthanumallian
,
Andrea Del Cortona
,
Susana M. Coelho
,
Olivier De Clerck
,
Sebastian Duchene
,
and
Heroen Verbruggen
Genome Res.
August 2024
34
:
1130
-
1139
;
Published in Advance
August 29, 2024
,
doi:
10.1101/gr.279002.124
...).DiscussionBody architecture strongly correlates with molecular evolutionThe influence of effective population size on the efficacy of purifying selection, imposing constraints on
amino
acid-altering nonsynonymous
substitutions
, is supported by both theoretical and empirical work (Ohta 1992; Moran 1996...
Abstract
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