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.
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.
Resequencing of 200 Human Exomes Identifies an Excess of Low-Frequency Non-Synonymous Coding Variants. Nature Genetics. 2010. 42:969-72.
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.
The Genomic Sequence of the Chinese Hamster Ovary (CHO) K1 Cell Line. Nature Biotechnology. 2011. 29:735-41.
2. Whole Genome de novo Assembly
Structural Variation in Two Human Genomes Mapped at Single-Nucleotide Resolution by Whole Genome de novo Assembly. Nature Biotechnology. 2011. 29:723-30.
4. Double-enzyme RRBS (dRRBS )
Double Restriction-enzyme Digestion Improves the Coverage and Accuracy of Genome-wide CpG Methylation Profiling by Reduced Representation Bisulfite Sequencing. BMC Genomics, 2013, 14(1): 11.
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
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.
Date: January 12 2015
Author: Kexin Chen, et al.
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