| 1 |
Genetic effects on gene expression across human tissues
François Aguet et al. · Nature
Open access250 authors |
10 Oct 2017 |
4,762 |
| 2 |
The repertoire of mutational signatures in human cancer
Ludmil B. Alexandrov et al. · Nature
Open access1,384 authors |
5 Feb 2020 |
3,854 |
| 3 |
The complete sequence of a human genome
Sergey Nurk et al. · Science
Open access100 authors |
31 Mar 2022 |
3,475 |
| 4 |
Oncogenic Signaling Pathways in The Cancer Genome Atlas
Francisco Sánchez-Vega et al. · Cell
Open access779 authors |
Apr 2018 |
3,452 |
| 5 |
Pan-cancer analysis of whole genomes
Lauri A. Aaltonen et al. · Nature
Open access1,324 authors |
5 Feb 2020 |
3,360 |
| 6 |
Comprehensive Characterization of Cancer Driver Genes and Mutations
Matthew H. Bailey et al. · Cell
Open access770 authors |
Apr 2018 |
2,560 |
| 7 |
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Daniel Taliun et al. · Nature
Open access427 authors |
10 Feb 2021 |
2,381 |
| 8 |
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
Anubha Mahajan et al. · Nature Genetics
Open access115 authors |
Oct 2018 |
1,968 |
| 9 |
Integrated genomic and molecular characterization of cervical cancer
Robert D. Burk et al. · Nature
Open access301 authors |
20 Jan 2017 |
1,631 |
| 10 |
A genomic mutational constraint map using variation in 76,156 human genomes
Siwei Chen et al. · Nature
Open access238 authors |
6 Dec 2023 |
1,453 |
| 11 |
Germline Mutations in Predisposition Genes in Pediatric Cancer
Jinghui Zhang et al. · New England Journal of Medicine
Open access |
18 Nov 2015 |
1,394 |
| 12 |
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
Valérie Schneider et al. · Genome Research
Open access |
10 Apr 2017 |
1,345 |
| 13 |
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
Alvaro Barbeira et al. · Nature Communications
Open access264 authors |
2 May 2018 |
1,265 |
| 14 |
Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas
Theo Knijnenburg et al. · Cell Reports
Open access763 authors |
Apr 2018 |
1,249 |
| 15 |
A draft human pangenome reference
Wen‐Wei Liao et al. · Nature
Open access119 authors |
10 May 2023 |
1,231 |
| 16 |
Integrated Proteogenomic Characterization of HBV-Related Hepatocellular Carcinoma
Qiang Gao et al. · Cell
Open access |
Oct 2019 |
1,189 |
| 17 |
The evolutionary history of 2,658 cancers
Moritz Gerstung et al. · Nature
Open access1,441 authors |
5 Feb 2020 |
1,149 |
| 18 |
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Marta Byrska-Bishop et al. · Cell
Open access |
Sep 2022 |
1,101 |
| 19 |
The power of genetic diversity in genome-wide association studies of lipids
Sarah E. Graham et al. · Nature
Open access527 authors |
9 Dec 2021 |
1,099 |
| 20 |
Integration of the Drug–Gene Interaction Database (DGIdb 4.0) with open crowdsource efforts
Sharon L. Freshour, Susanna Kiwala, Kelsy C. Cotto et al. · Nucleic Acids Research
Open access |
23 Oct 2020 |
1,019 |
| 21 |
Patterns of somatic structural variation in human cancer genomes
Yilong Li et al. · Nature
Open access1,411 authors |
5 Feb 2020 |
1,005 |
| 22 |
DGIdb 3.0: a redesign and expansion of the drug–gene interaction database
Kelsy C. Cotto, Alex H. Wagner, Yang-Yang Feng et al. · Nucleic Acids Research
Open access |
6 Nov 2017 |
995 |
| 23 |
Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines
Kyle Ellrott et al. · Cell Systems
Open access740 authors |
Mar 2018 |
968 |
| 24 |
A saturated map of common genetic variants associated with human height
Loïc Yengo et al. · Nature
Open access632 authors |
12 Oct 2022 |
934 |
| 25 |
Pathogenic Germline Variants in 10,389 Adult Cancers
Kuan‐lin Huang et al. · Cell
Open access772 authors |
Apr 2018 |
907 |
| 26 |
Comparative cellular analysis of motor cortex in human, marmoset and mouse
Trygve E. Bakken et al. · Nature
Open access106 authors |
6 Oct 2021 |
874 |
| 27 |
Proteogenomic Analysis of Human Colon Cancer Reveals New Therapeutic Opportunities
Suhas V. Vasaikar et al. · Cell
Open access |
25 Apr 2019 |
867 |
| 28 |
Telomere-to-telomere assembly of a complete human X chromosome
Karen H. Miga et al. · Nature
Open access |
14 Jul 2020 |
844 |
| 29 |
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Isidro Cortés-Ciriano et al. · Nature Genetics
Open access1,407 authors |
5 Feb 2020 |
793 |
| 30 |
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
Anubha Mahajan et al. · Nature Genetics
Open access354 authors |
May 2022 |
774 |
| 31 |
Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer
David Alan Quigley et al. · Cell
Open access |
Jul 2018 |
762 |
| 32 |
Long noncoding RNAs in cancer metastasis
Siyuan John Liu, Ha X. Dang, Daniel A. Lim et al. · Nature reviews. Cancer
ReviewOpen access |
5 May 2021 |
723 |
| 33 |
Proteogenomic and metabolomic characterization of human glioblastoma
Liang-Bo Wang et al. · Cancer Cell
Open access238 authors |
11 Feb 2021 |
722 |
| 34 |
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer
Malachi Griffith et al. · Nature Genetics
Open access |
31 Jan 2017 |
693 |
| 35 |
TREM2 Modulation Remodels the Tumor Myeloid Landscape Enhancing Anti-PD-1 Immunotherapy
Martina Molgora et al. · Cell
Open access |
Aug 2020 |
682 |
| 36 |
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
Esther Rheinbay et al. · Nature
Open access1,621 authors |
5 Feb 2020 |
674 |
| 37 |
SpeedSeq: ultra-fast personal genome analysis and interpretation
Colby Chiang, Ryan M. Layer, Gregory G. Faust et al. · Nature Methods
Open access |
10 Aug 2015 |
666 |
| 38 |
Driver Fusions and Their Implications in the Development and Treatment of Human Cancers
Qingsong Gao et al. · Cell Reports
Open access747 authors |
Apr 2018 |
665 |
| 39 |
Rare and low-frequency coding variants alter human adult height
Eirini Marouli et al. · Nature
Open access373 authors |
31 Jan 2017 |
665 |
| 40 |
Education and the Brain: A Bridge Too Far
John T. Bruer · Educational Researcher
|
Nov 1997 |
652 |
| 41 |
Comparative genomics of the major parasitic worms
Avril Coghlan et al. · Nature Genetics
Open access |
29 Oct 2018 |
626 |
| 42 |
The Human Tumor Atlas Network: Charting Tumor Transitions across Space and Time at Single-Cell Resolution
Orit Rozenblatt–Rosen et al. · Cell
Open access394 authors |
Apr 2020 |
623 |
| 43 |
Proteogenomic characterization of pancreatic ductal adenocarcinoma
Liwei Cao et al. · Cell
Open access139 authors |
Sep 2021 |
619 |
| 44 |
Exome-wide association study of plasma lipids in >300,000 individuals
Charge Diabetes Working Group et al. · Nature Genetics
Open access229 authors |
30 Oct 2017 |
599 |
| 45 |
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Ken Suzuki et al. · Nature
Open access369 authors |
19 Feb 2024 |
598 |
| 46 |
Characterizing the Major Structural Variant Alleles of the Human Genome
Peter A. Audano, Arvis Sulovari, Tina A. Graves-Lindsay et al. · Cell
Open access |
2019 |
587 |
| 47 |
The Human Pangenome Project: a global resource to map genomic diversity
Ting Wang et al. · Nature
Open access |
20 Apr 2022 |
579 |
| 48 |
The impact of structural variation on human gene expression
Colby Chiang, Alexandra J. Scott, Joe R. Davis et al. · Nature Genetics
Open access |
3 Apr 2017 |
558 |
| 49 |
Proteogenomic Characterization of Endometrial Carcinoma
Yongchao Dou et al. · Cell
Open access218 authors |
Feb 2020 |
542 |
| 50 |
pVAC-Seq: A genome-guided in silico approach to identifying tumor neoantigens
Jasreet Hundal, Beatriz M. Carreno, Allegra A. Petti et al. · Genome Medicine
Open access |
29 Jan 2016 |
523 |