Choose   Change

Our Publications

All links lead to external websites.


Individuals and Populations

1. Human Genome Project
Initial Sequencing and Analysis of the Human Genome. Nature. 2001. 409:860-921.

2. The International HapMap Project
The International HapMap Project. Nature. 2003. 426:789-96.

3. An Asian Individual
The Diploid Genome Sequence of an Asian Individual. Nature. 2008. 456:60-5.

4. Ancient Human Genome
Ancient Human Genome Sequence of an Extinct Palaeo-Eskimo. Nature. 2010. 463:757-62.

5. Adaptation to High Altitude
Altitude Adaptation in Tibetans Caused by Introgression of Denisovan-like DNA. Nature. 2014. 512, 194–197.

6. An Aboriginal Australian Genome
An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia. Science. 2011. 334:94-8.

7. Human Pan-Genome
Building the Sequence Map of the Human Pan-Genome. Nature Biotechnology. 2010. 28:57-63.

8. The 1000 Genomes Project
An Integrated Map of Genetic Variation from 1,092 Human Genomes. Nature. 2012. 491:56-65.
A Map of Human Genome Variation from Population-Scale Sequencing. Nature. 2010. 467: 1061-73.

Diseases & Traits


1. Oesophageal Carcinoma
Identification of Genomic Alterations in Oesophageal Squamous Cell Cancer. Nature. 2014. 509, 91–95.

2. Adrenocortical Carcinoma
Activating Hotspot L205R Mutation in PRKACA and Adrenal Cushing’s Syndrome. Science. 2014. 344, 913-917.

3. Colon Cancer
Discovery of Biclonal Origin and a Novel Oncogene SLC12A5 in Colon Cancer by Single-cell Sequencing. Cell Research. 2014. 24(6): 701-12

4. Hepatocellular Carcinoma
Whole Genome Sequencing Identifies Recurrent Mutations in Hepatocellular Carcinoma. Genome Research. 2013. Doi:10.1101

Genome-wide Survey of Recurrent HBV Integration in Hepatocellular Carcinoma. Nature Genetics. 2012. 44:765-9.

Identification of miRNomes in Human Liver and Hepatocellular Carcinoma Reveals miR-199a/b-3p as Therapeutic Target for Hepatocellular Carcinoma. Cancer Cell. 2011. 19: 232-43.

5. Clear Cell Renal Cell Carcinoma
Frequent Mutations of Genes Encoding Ubiquitin-mediated Proteolysis Pathway Components in Clear Cell Renal Cell Carcinoma. Nature Genetics. 2011. 44:17-9.

6. Bladder Carcinoma
Whole-genome and Whole-exome Sequencing of Bladder Cancer Identifies Frequent Alterations in Genes Involved in Sister Chromatid Cohesion and Segregation. Nature Genetics. 2013. 45, 1459–1463.

Frequent Mutations of Chromatin Remodeling Genes in Transitional Cell Carcinoma of the Bladder. Nature Genetics. 2011. 43:875-8.

7. Glioblastoma
Transforming Fusions of FGFR and TACC Genes in Human Glioblastoma. Science. 2012. 337:1231-5.

8. Insulinoma
Whole Exome Sequencing of Insulinoma Reveals Recurrent T372R Mutations in YY1. Nature Commu- nications, 2013, 4:2810.

9. Urogenital Tumors
Telomerase Reverse Transcriptase Gene Promoter Mutations Help Discern the Origin of Urogeni- tal Tumors: A Genomic and Molecular Study. European Urology, 2014. 65(2):274-7.

Complex Diseases

An Integrated Catalog of Reference Genes in the Human Gut Microbiome. Nature Biotechnology. 2014. 32, 834–841

Resequencing of 200 Human Exomes Identifies an Excess of Low-Frequency Non-Synonymous Coding Variants. Nature Genetics. 2010. 42:969-72.

2. Autism
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder Using Whole Genome Sequencing. The American Journal of Human Genetics. 2013. 93(2):249-63.

Whole Genome Sequencing in Autism Identifies Hotspots for Germline Mutation. Cell. 2012. 151: 1431-42.

3. Type-2 Diabetes
Genome-wide Trans-ancestry Meta-analysis Provides Insight Into the Genetic Architecture of Type 2 Diabetes Susceptibility. Nature Genetics. 2014. 46(3):234-44

4. Pain
Differential Methylation of the TRPA1 Promoter in Pain Sensitivity. Nature Communications. 2014. doi:10.1038/ncomms3978

5. Psoriasis
A Large-scale Screen for Coding Variants Predisposing to Psoriasis. Nature Genetics, 2014. 46, 45–50.

Mendelian Disorders

1. Paroxysmal Kinesigenic Dyskinesia
Exome Sequencing Identifies Truncating Mutations in PRRT2 that Cause Paroxysmal Kinesigenic Dyskine- sia. Nature Genetics. 2011. 43:1252-5.

2. Olmsted Syndrome
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome. American Journal of Human Genetics. 2012. 90:558-64.

3. Leber Congenital Amaurosis
Exome Sequencing Identifies NMNAT1 Mutations as a Cause of Leber Congenital Amaurosis. Nature Genetics. 2012. 44:972-4.

4. Porokeratosis
Exome Sequencing Identifies MVK Mutations in Disseminated Superficial Actinic Porokeratosis. Nature Genetics. 2012. 44:1156-60.

Cell Genomes

Adaptation and possible ancient interspecies introgression in pigs identified by whole-genome sequencing

Date: January 26 2015
Author: Huashui Ai, et al.
Publication: Nature Genetics

Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6

Date: January 20 2015
Author: Andrea Masotti, et al.
Publication: American Journal of Human Genetics

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

Date: January 19 2015
Author: Søren Besenbacher, et al.
Publication: Nature Comunications

The draft genome of Tibetan hulless barley reveals adaptive patterns to the high stressful Tibetan Plateau

Date: January 12 2015
Author: Xingquan Zeng, et al.
Publication: PNAS

Mutational landscape of gastric adenocarcinoma in Chinese: Implications for prognosis and therapy

Date: January 12 2015
Author: Kexin Chen, et al.
Publication: PNAS

Contact USA

Don’t hesitate to contact us to request a quote or to talk more about your requirements and how we can support your needs.

(+45) 80 300 800 (Europe)
(+1) 617 500 2741 (Americas)
(+852) 36103510 (Asia Pacific)
(+86) 755 25273698 (China)

BGI certificates

Copyright © BGI 2016