Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
Initial sequencing and comparative analysis of the mouse genome.
|
Nature
|
2002
|
96.15
|
2
|
A second generation human haplotype map of over 3.1 million SNPs.
|
Nature
|
2007
|
85.39
|
3
|
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.
|
Nature
|
2007
|
75.09
|
4
|
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.
|
Genome Res
|
2005
|
44.08
|
5
|
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1.
|
Cancer Cell
|
2010
|
39.09
|
6
|
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
|
Nature
|
2008
|
38.13
|
7
|
Recurring mutations found by sequencing an acute myeloid leukemia genome.
|
N Engl J Med
|
2009
|
33.09
|
8
|
Whole-genome sequencing and variant discovery in C. elegans.
|
Nat Methods
|
2008
|
31.92
|
9
|
Mapping and sequencing of structural variation from eight human genomes.
|
Nature
|
2008
|
30.28
|
10
|
Somatic mutations affect key pathways in lung adenocarcinoma.
|
Nature
|
2008
|
30.02
|
11
|
International network of cancer genome projects.
|
Nature
|
2010
|
20.35
|
12
|
Genome remodelling in a basal-like breast cancer metastasis and xenograft.
|
Nature
|
2010
|
19.68
|
13
|
The B73 maize genome: complexity, diversity, and dynamics.
|
Science
|
2009
|
18.73
|
14
|
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.
|
Nat Methods
|
2009
|
18.41
|
15
|
Evolution of genes and genomes on the Drosophila phylogeny.
|
Nature
|
2007
|
18.01
|
16
|
Genome-wide detection and characterization of positive selection in human populations.
|
Nature
|
2007
|
17.27
|
17
|
Characterizing the cancer genome in lung adenocarcinoma.
|
Nature
|
2007
|
16.48
|
18
|
Evolutionary and biomedical insights from the rhesus macaque genome.
|
Science
|
2007
|
16.21
|
19
|
Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma.
|
Cancer Cell
|
2010
|
16.12
|
20
|
VarScan: variant detection in massively parallel sequencing of individual and pooled samples.
|
Bioinformatics
|
2009
|
16.04
|
21
|
VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing.
|
Genome Res
|
2012
|
15.90
|
22
|
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing.
|
Nature
|
2012
|
14.33
|
23
|
DNMT3A mutations in acute myeloid leukemia.
|
N Engl J Med
|
2010
|
14.07
|
24
|
The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics.
|
PLoS Biol
|
2003
|
13.32
|
25
|
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
|
Nature
|
2003
|
12.44
|
26
|
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia.
|
Nature
|
2012
|
9.89
|
27
|
De novo gene disruptions in children on the autistic spectrum.
|
Neuron
|
2012
|
9.69
|
28
|
The origin and evolution of mutations in acute myeloid leukemia.
|
Cell
|
2012
|
9.66
|
29
|
A high-resolution map of human evolutionary constraint using 29 mammals.
|
Nature
|
2011
|
8.67
|
30
|
Comparison of genome degradation in Paratyphi A and Typhi, human-restricted serovars of Salmonella enterica that cause typhoid.
|
Nat Genet
|
2004
|
8.60
|
31
|
A catalog of reference genomes from the human microbiome.
|
Science
|
2010
|
8.10
|
32
|
Whole-genome analysis informs breast cancer response to aromatase inhibition.
|
Nature
|
2012
|
8.03
|
33
|
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.
|
Nat Genet
|
2012
|
7.61
|
34
|
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome.
|
Genome Res
|
2007
|
7.05
|
35
|
The DNA sequence of the human X chromosome.
|
Nature
|
2005
|
6.97
|
36
|
Clonal architecture of secondary acute myeloid leukemia.
|
N Engl J Med
|
2012
|
6.71
|
37
|
Genomic landscape of non-small cell lung cancer in smokers and never-smokers.
|
Cell
|
2012
|
6.09
|
38
|
Viral discovery and sequence recovery using DNA microarrays.
|
PLoS Biol
|
2003
|
5.95
|
39
|
The genome of a songbird.
|
Nature
|
2010
|
5.90
|
40
|
Evolution of symbiotic bacteria in the distal human intestine.
|
PLoS Biol
|
2007
|
5.79
|
41
|
Genome analysis of the platypus reveals unique signatures of evolution.
|
Nature
|
2008
|
5.74
|
42
|
SomaticSniper: identification of somatic point mutations in whole genome sequencing data.
|
Bioinformatics
|
2011
|
5.62
|
43
|
A genome-wide comparison of recent chimpanzee and human segmental duplications.
|
Nature
|
2005
|
5.51
|
44
|
Characterization of missing human genome sequences and copy-number polymorphic insertions.
|
Nat Methods
|
2010
|
5.44
|
45
|
Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
|
N Engl J Med
|
2014
|
5.37
|
46
|
CREST maps somatic structural variation in cancer genomes with base-pair resolution.
|
Nat Methods
|
2011
|
5.34
|
47
|
A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms.
|
Nature
|
2004
|
5.24
|
48
|
Modernizing reference genome assemblies.
|
PLoS Biol
|
2011
|
5.23
|
49
|
A novel retinoblastoma therapy from genomic and epigenetic analyses.
|
Nature
|
2012
|
5.02
|
50
|
Novel mutations target distinct subgroups of medulloblastoma.
|
Nature
|
2012
|
4.82
|
51
|
MuSiC: identifying mutational significance in cancer genomes.
|
Genome Res
|
2012
|
4.73
|
52
|
The genome of the Western clawed frog Xenopus tropicalis.
|
Science
|
2010
|
4.70
|
53
|
Landscape of somatic retrotransposition in human cancers.
|
Science
|
2012
|
4.37
|
54
|
Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.
|
Nature
|
2003
|
4.31
|
55
|
Acquired copy number alterations in adult acute myeloid leukemia genomes.
|
Proc Natl Acad Sci U S A
|
2009
|
4.17
|
56
|
Insights into hominid evolution from the gorilla genome sequence.
|
Nature
|
2012
|
4.12
|
57
|
Use of whole-genome sequencing to diagnose a cryptic fusion oncogene.
|
JAMA
|
2011
|
4.11
|
58
|
Characterizing a model human gut microbiota composed of members of its two dominant bacterial phyla.
|
Proc Natl Acad Sci U S A
|
2009
|
4.09
|
59
|
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.
|
Nat Genet
|
2011
|
4.02
|
60
|
The Pristionchus pacificus genome provides a unique perspective on nematode lifestyle and parasitism.
|
Nat Genet
|
2008
|
3.93
|
61
|
Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.
|
Blood
|
2008
|
3.89
|
62
|
Endocrine-therapy-resistant ESR1 variants revealed by genomic characterization of breast-cancer-derived xenografts.
|
Cell Rep
|
2013
|
3.85
|
63
|
Comparative and demographic analysis of orang-utan genomes.
|
Nature
|
2011
|
3.83
|
64
|
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia.
|
Blood
|
2007
|
3.73
|
65
|
A burst of segmental duplications in the genome of the African great ape ancestor.
|
Nature
|
2009
|
3.63
|
66
|
Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas.
|
Nat Genet
|
2013
|
3.51
|
67
|
The genomic landscape of hypodiploid acute lymphoblastic leukemia.
|
Nat Genet
|
2013
|
3.43
|
68
|
Evolutionary toggling of the MAPT 17q21.31 inversion region.
|
Nat Genet
|
2008
|
3.42
|
69
|
The next-generation sequencing revolution and its impact on genomics.
|
Cell
|
2013
|
3.35
|
70
|
A human genome structural variation sequencing resource reveals insights into mutational mechanisms.
|
Cell
|
2010
|
3.22
|
71
|
The DNA sequence of human chromosome 7.
|
Nature
|
2003
|
3.18
|
72
|
The theory of discovering rare variants via DNA sequencing.
|
BMC Genomics
|
2009
|
3.12
|
73
|
Great ape genetic diversity and population history.
|
Nature
|
2013
|
2.95
|
74
|
Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content.
|
Nature
|
2010
|
2.92
|
75
|
Genomic and metabolic adaptations of Methanobrevibacter smithii to the human gut.
|
Proc Natl Acad Sci U S A
|
2007
|
2.79
|
76
|
The structure and evolution of centromeric transition regions within the human genome.
|
Nature
|
2004
|
2.78
|
77
|
Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution.
|
Nat Genet
|
2013
|
2.76
|
78
|
Reconstructing complex regions of genomes using long-read sequencing technology.
|
Genome Res
|
2014
|
2.63
|
79
|
Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.
|
JAMA
|
2011
|
2.61
|
80
|
Aspects of coverage in medical DNA sequencing.
|
BMC Bioinformatics
|
2008
|
2.60
|
81
|
Use of cigarette-smoking history to estimate the likelihood of mutations in epidermal growth factor receptor gene exons 19 and 21 in lung adenocarcinomas.
|
J Clin Oncol
|
2006
|
2.58
|
82
|
PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data.
|
Genome Res
|
2007
|
2.58
|
83
|
Oil palm genome sequence reveals divergence of interfertile species in Old and New worlds.
|
Nature
|
2013
|
2.58
|
84
|
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
|
Nat Genet
|
2010
|
2.57
|
85
|
Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity.
|
Genomics
|
2002
|
2.54
|
86
|
Association of age at diagnosis and genetic mutations in patients with neuroblastoma.
|
JAMA
|
2012
|
2.49
|
87
|
The Pediatric Cancer Genome Project.
|
Nat Genet
|
2012
|
2.49
|
88
|
Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.
|
Cancer Res
|
2008
|
2.48
|
89
|
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.
|
Cell
|
2012
|
2.43
|
90
|
Genome sequence of Cronobacter sakazakii BAA-894 and comparative genomic hybridization analysis with other Cronobacter species.
|
PLoS One
|
2010
|
2.41
|
91
|
Challenges of sequencing human genomes.
|
Brief Bioinform
|
2010
|
2.39
|
92
|
Human genome ultraconserved elements are ultraselected.
|
Science
|
2007
|
2.34
|
93
|
Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
|
Nature
|
2005
|
2.27
|
94
|
DGIdb: mining the druggable genome.
|
Nat Methods
|
2013
|
2.26
|
95
|
Mutational analysis of EGFR and related signaling pathway genes in lung adenocarcinomas identifies a novel somatic kinase domain mutation in FGFR4.
|
PLoS One
|
2007
|
2.25
|
96
|
Cancer genome sequencing: a review.
|
Hum Mol Genet
|
2009
|
2.15
|
97
|
Background mutations in parental cells account for most of the genetic heterogeneity of induced pluripotent stem cells.
|
Cell Stem Cell
|
2012
|
2.11
|
98
|
Haplotype sorting using human fosmid clone end-sequence pairs.
|
Genome Res
|
2008
|
2.10
|
99
|
The Oxytricha trifallax macronuclear genome: a complex eukaryotic genome with 16,000 tiny chromosomes.
|
PLoS Biol
|
2013
|
2.08
|
100
|
Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes.
|
Nature
|
2012
|
2.06
|
101
|
The genome of Cyanothece 51142, a unicellular diazotrophic cyanobacterium important in the marine nitrogen cycle.
|
Proc Natl Acad Sci U S A
|
2008
|
2.05
|
102
|
The draft genome of the parasitic nematode Trichinella spiralis.
|
Nat Genet
|
2011
|
2.03
|
103
|
Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee.
|
Nature
|
2005
|
1.97
|
104
|
The western painted turtle genome, a model for the evolution of extreme physiological adaptations in a slowly evolving lineage.
|
Genome Biol
|
2013
|
1.87
|
105
|
A physical map of the chicken genome.
|
Nature
|
2004
|
1.86
|
106
|
Sequence and comparative analysis of the maize NB mitochondrial genome.
|
Plant Physiol
|
2004
|
1.83
|
107
|
Genomic impact of transient low-dose decitabine treatment on primary AML cells.
|
Blood
|
2013
|
1.80
|
108
|
CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data.
|
Bioinformatics
|
2009
|
1.73
|
109
|
The repetitive landscape of the chicken genome.
|
Genome Res
|
2004
|
1.72
|
110
|
A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes.
|
Proc Natl Acad Sci U S A
|
2003
|
1.69
|
111
|
Sequencing a mouse acute promyelocytic leukemia genome reveals genetic events relevant for disease progression.
|
J Clin Invest
|
2011
|
1.66
|
112
|
The physical and genetic framework of the maize B73 genome.
|
PLoS Genet
|
2009
|
1.64
|
113
|
An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia.
|
Cancer Cell
|
2012
|
1.61
|
114
|
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
|
Blood
|
2004
|
1.58
|
115
|
Identification of somatic JAK1 mutations in patients with acute myeloid leukemia.
|
Blood
|
2007
|
1.55
|
116
|
Analysis of human mRNAs with the reference genome sequence reveals potential errors, polymorphisms, and RNA editing.
|
Genome Res
|
2004
|
1.51
|
117
|
Genome sequence of enterovirus D68 from St. Louis, Missouri, USA.
|
Emerg Infect Dis
|
2015
|
1.49
|
118
|
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee.
|
Genome Res
|
2011
|
1.47
|
119
|
Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition.
|
Nature
|
2010
|
1.46
|
120
|
PathScan: a tool for discerning mutational significance in groups of putative cancer genes.
|
Bioinformatics
|
2011
|
1.46
|
121
|
Comparative genomics based on massive parallel transcriptome sequencing reveals patterns of substitution and selection across 10 bird species.
|
Mol Ecol
|
2010
|
1.44
|
122
|
Reduced PU.1 expression causes myeloid progenitor expansion and increased leukemia penetrance in mice expressing PML-RARalpha.
|
Proc Natl Acad Sci U S A
|
2005
|
1.43
|
123
|
The genome of the platyfish, Xiphophorus maculatus, provides insights into evolutionary adaptation and several complex traits.
|
Nat Genet
|
2013
|
1.42
|
124
|
After the duplication: gene loss and adaptation in Saccharomyces genomes.
|
Genetics
|
2005
|
1.40
|
125
|
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.
|
Nat Genet
|
2013
|
1.39
|
126
|
What is finished, and why does it matter.
|
Genome Res
|
2002
|
1.36
|
127
|
BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data.
|
Bioinformatics
|
2012
|
1.31
|
128
|
Chromothripsis and human disease: piecing together the shattering process.
|
Cell
|
2012
|
1.30
|
129
|
Detailed analysis of a contiguous 22-Mb region of the maize genome.
|
PLoS Genet
|
2009
|
1.29
|
130
|
Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation.
|
Am J Hum Genet
|
2013
|
1.29
|
131
|
A vertebrate case study of the quality of assemblies derived from next-generation sequences.
|
Genome Biol
|
2011
|
1.22
|
132
|
Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites.
|
Genome Res
|
2008
|
1.21
|
133
|
Retrotransposition of gene transcripts leads to structural variation in mammalian genomes.
|
Genome Biol
|
2013
|
1.20
|
134
|
Molecular refinement of gibbon genome rearrangements.
|
Genome Res
|
2006
|
1.16
|
135
|
Nematode.net: a tool for navigating sequences from parasitic and free-living nematodes.
|
Nucleic Acids Res
|
2004
|
1.16
|
136
|
Complete characterization of the microRNAome in a patient with acute myeloid leukemia.
|
Blood
|
2010
|
1.16
|
137
|
Independent specialization of the human and mouse X chromosomes for the male germ line.
|
Nat Genet
|
2013
|
1.15
|
138
|
Application of a superword array in genome assembly.
|
Nucleic Acids Res
|
2006
|
1.14
|
139
|
A lover and a fighter: the genome sequence of an entomopathogenic nematode Heterorhabditis bacteriophora.
|
PLoS One
|
2013
|
1.11
|
140
|
Physical map-assisted whole-genome shotgun sequence assemblies.
|
Genome Res
|
2006
|
1.10
|
141
|
Genome of the house fly, Musca domestica L., a global vector of diseases with adaptations to a septic environment.
|
Genome Biol
|
2014
|
1.08
|
142
|
Somatic mutations of PIK3R1 promote gliomagenesis.
|
PLoS One
|
2012
|
1.06
|
143
|
A non-human primate system for large-scale genetic studies of complex traits.
|
Hum Mol Genet
|
2012
|
1.05
|
144
|
Platypus globin genes and flanking loci suggest a new insertional model for beta-globin evolution in birds and mammals.
|
BMC Biol
|
2008
|
1.03
|
145
|
Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus.
|
Am J Hum Genet
|
2012
|
1.02
|
146
|
Investigating hookworm genomes by comparative analysis of two Ancylostoma species.
|
BMC Genomics
|
2005
|
1.02
|
147
|
Genomic landscapes and clonality of de novo AML.
|
N Engl J Med
|
2013
|
1.01
|
148
|
Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.
|
BMC Genomics
|
2014
|
0.99
|
149
|
Intestinal transcriptomes of nematodes: comparison of the parasites Ascaris suum and Haemonchus contortus with the free-living Caenorhabditis elegans.
|
PLoS Negl Trop Dis
|
2008
|
0.98
|
150
|
Punctuated duplication seeding events during the evolution of human chromosome 2p11.
|
Genome Res
|
2005
|
0.97
|
151
|
RB1 gene inactivation by chromothripsis in human retinoblastoma.
|
Oncotarget
|
2014
|
0.96
|
152
|
The canine hookworm genome: analysis and classification of Ancylostoma caninum survey sequences.
|
Mol Biochem Parasitol
|
2007
|
0.96
|
153
|
Massively parallel sequencing approaches for characterization of structural variation.
|
Methods Mol Biol
|
2012
|
0.96
|
154
|
Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data.
|
Genome Biol
|
2012
|
0.95
|
155
|
Novel venom gene discovery in the platypus.
|
Genome Biol
|
2010
|
0.94
|
156
|
Characterizing Ancylostoma caninum transcriptome and exploring nematode parasitic adaptation.
|
BMC Genomics
|
2010
|
0.93
|
157
|
Comparing low coverage random shotgun sequence data from Brassica oleracea and Oryza sativa genome sequence for their ability to add to the annotation of Arabidopsis thaliana.
|
Genome Res
|
2005
|
0.92
|
158
|
Statistical aspects of discerning indel-type structural variation via DNA sequence alignment.
|
BMC Genomics
|
2009
|
0.91
|
159
|
EAnnot: a genome annotation tool using experimental evidence.
|
Genome Res
|
2004
|
0.90
|
160
|
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.
|
Am J Hum Genet
|
2012
|
0.90
|
161
|
Has the chimpanzee Y chromosome been sequenced?
|
Nat Genet
|
2006
|
0.89
|
162
|
Identification and analysis of genes expressed in the adult filarial parasitic nematode Dirofilaria immitis.
|
Int J Parasitol
|
2006
|
0.88
|
163
|
The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2.
|
Genome Res
|
2012
|
0.87
|
164
|
Next-generation sequencing of cancer genomes: back to the future.
|
Per Med
|
2009
|
0.86
|
165
|
Design and implementation of a generalized laboratory data model.
|
BMC Bioinformatics
|
2007
|
0.86
|
166
|
Comprehensive genetic variant discovery in the surfactant protein B gene.
|
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