Title |
Towards a comprehensive structural variation map of an individual human genome
|
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Published in |
Genome Biology, May 2010
|
DOI | 10.1186/gb-2010-11-5-r52 |
Pubmed ID | |
Authors |
Andy W Pang, Jeffrey R MacDonald, Dalila Pinto, John Wei, Muhammad A Rafiq, Donald F Conrad, Hansoo Park, Matthew E Hurles, Charles Lee, J Craig Venter, Ewen F Kirkness, Samuel Levy, Lars Feuk, Stephen W Scherer |
Abstract |
Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/deletions (indels), the annotation of larger structural variants has been less comprehensive. It is still unclear to what extent a typical genome differs from the reference assembly, and the analysis of the genomes sequenced to date have shown varying results for copy number variation (CNV) and inversions. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 10 | 2% |
United Kingdom | 6 | 1% |
Brazil | 5 | 1% |
Belgium | 4 | <1% |
Canada | 3 | <1% |
Switzerland | 2 | <1% |
Netherlands | 2 | <1% |
Italy | 2 | <1% |
Sweden | 1 | <1% |
Other | 11 | 2% |
Unknown | 402 | 90% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 107 | 24% |
Researcher | 102 | 23% |
Student > Master | 50 | 11% |
Student > Bachelor | 34 | 8% |
Professor > Associate Professor | 28 | 6% |
Other | 82 | 18% |
Unknown | 45 | 10% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 222 | 50% |
Biochemistry, Genetics and Molecular Biology | 82 | 18% |
Medicine and Dentistry | 35 | 8% |
Computer Science | 26 | 6% |
Engineering | 6 | 1% |
Other | 29 | 6% |
Unknown | 48 | 11% |