Title |
Improving bioinformatic pipelines for exome variant calling
|
---|---|
Published in |
Genome Medicine, January 2012
|
DOI | 10.1186/gm306 |
Pubmed ID | |
Authors |
Hanlee P Ji |
Abstract |
Exome sequencing analysis is a cost-effective approach for identifying variants in coding regions. However, recognizing the relevant single nucleotide variants, small insertions and deletions remains a challenge for many researchers and diagnostic laboratories typically do not have access to the bioinformatic analysis pipelines necessary for clinical application. The Atlas2 suite, recently released by Baylor Genome Center, is designed to be widely accessible, runs on desktop computers but is scalable to computational clusters, and performs comparably with other popular variant callers. Atlas2 may be an accessible alternative for data processing when a rapid solution for variant calling is required.See research article http://www.biomedcentral.com/1471-2105/13/8. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 33% |
France | 1 | 33% |
Germany | 1 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 67% |
Members of the public | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 6 | 9% |
United Kingdom | 4 | 6% |
Italy | 1 | 2% |
Germany | 1 | 2% |
Korea, Republic of | 1 | 2% |
Kenya | 1 | 2% |
Unknown | 50 | 78% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 25 | 39% |
Student > Ph. D. Student | 9 | 14% |
Student > Master | 9 | 14% |
Other | 5 | 8% |
Student > Postgraduate | 5 | 8% |
Other | 10 | 16% |
Unknown | 1 | 2% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 33 | 52% |
Biochemistry, Genetics and Molecular Biology | 12 | 19% |
Computer Science | 5 | 8% |
Medicine and Dentistry | 5 | 8% |
Engineering | 2 | 3% |
Other | 3 | 5% |
Unknown | 4 | 6% |