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A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Nature. 2010. PMID: 20981092 Free PMC article.
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M, Faquih T, El-Kalioby M, Alkuraya FS. Abouelhoda M, et al. Genome Biol. 2016 Nov 24;17(1):235. doi: 10.1186/s13059-016-1102-1. Genome Biol. 2016. PMID: 27884173 Free PMC article.
An informatics approach to analyzing the incidentalome.
Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP. Berg JS, et al. Genet Med. 2013 Jan;15(1):36-44. doi: 10.1038/gim.2012.112. Epub 2012 Sep 20. Genet Med. 2013. PMID: 22995991 Free PMC article.
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.
Claeys KG, Fardeau M, Schröder R, Suominen T, Tolksdorf K, Behin A, Dubourg O, Eymard B, Maisonobe T, Stojkovic T, Faulkner G, Richard P, Vicart P, Udd B, Voit T, Stoltenburg G. Claeys KG, et al. Neuromuscul Disord. 2008 Aug;18(8):656-66. doi: 10.1016/j.nmd.2008.06.367. Epub 2008 Jul 23. Neuromuscul Disord. 2008. PMID: 18653338