Research
Sequencing and analysis of an Irish human genome
- † Equal contributors
1 Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland
2 MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK
3 Colon Cancer Genetics Group and Academic Coloproctology, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK
4 Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin 2, Ireland
5 School of Mathematical Sciences, University College Dublin, Belfield, Dublin 4, Ireland
6 Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland
7 Department of Neurology, Beaumont Hospital and Trinity College Dublin, Beaumont Road, Dublin 9, Ireland
8 School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland
9 Centre for Population Health Sciences, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK
Genome Biology 2010, 11:R91 doi:10.1186/gb-2010-11-9-r91
Published: 7 September 2010Additional files
Additional file 1:
Figure S1. Principal components analysis plot adapted from [15] illustrating the position of our Irish Individual with respect to other individuals of western European origin.
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Additional file 2:
Supplementary tables. Table S1: novel variants in LD with heterozygous polymorphisms previously associated with disease. Table S2: indels in coding sequence regions. Table S3: Tajima's D values. Table S4: re-sequencing results of 26 coding indels.
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Additional file 3:
Figure S2. Confirmation of rs3197999 in the Irish individual via standard PCR resequencing.
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Additional file 4:
Figure S3. Confirmation of the novel nonsense variant in MST1 via standard PCR followed by sequencing.
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Additional file 5:
Table S5. The resulting genotype calls for chromosome 20.
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