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Sequencing and analysis of an Irish human genome

Pin Tong1, James GD Prendergast2, Amanda J Lohan1, Susan M Farrington23, Simon Cronin4, Nial Friel5, Dan G Bradley6, Orla Hardiman7, Alex Evans8, James F Wilson9 and Brendan Loftus1*

Author Affiliations

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

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Genome Biology 2010, 11:R91  doi:10.1186/gb-2010-11-9-r91

Published: 7 September 2010

Additional 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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