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Method: lobSTR: A short tandem repeat profiler for personal genomes
- Melissa Gymrek,
- David Golan,
- Saharon Rosset,
- and Yaniv Erlich
Genome Res. June 2012 22: 1154-1162; Published in Advance April 20, 2012, doi:10.1101/gr.135780.111
...–402. Ellegren H. 2004. Microsatellites: Simple sequences with complex evolution. Nat Rev Genet 5: 435–445. Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O. 2011. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A...
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Insight/Outlook: Genomic contributions to Mendelian disease
- Aravinda Chakravarti
Genome Res. May 2011 21: 643-644; doi:10.1101/gr.123554.111
..., Thekkat P, Shaag A, Dor T. 2011. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res (this issue). doi: 10.1101/gr.117143.110. McKusick VA. 1998. Mendelian inheritance in man. A catalog of human genes and genetic...

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