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Towards a Genetic Genealogy driven Irish Reference Genome

Gerard Corcoran Gerard Corcoran

1. Huawei, Innovation and Research Partnerships 2. IEEE, Advanced technology for Humanity 3. ISHG, Irish Society of Human Genetics 4. ISOGG, International Society Genetic Genealogy 5. Patient Advisory Board Genuity Science 6. Board Economic Council 7. Board Business District 8. Task Force, Smart , Smart Docklands, Smart Sandyford, Smart , Digital Dun Laoghaire 9. Nominated Supervisory Board IADT 10. Nominated Strategic Climate Change Committee 11. Chief Innovation Officer, Ziran Education Foundation 12. Administrator, Genetic Genealogy Ireland 13. Administrator, DNA Outreach Ireland 14. Administrator, Irish Midlands DNA Project 15. Administrator, DNA Project ISOGG Ireland

1. Evolution of Genetic Genealogy in Ireland 1. Irish Project Administration 2. Irish Surname and SNP Analysis 3. Genetic Genealogy Vendors 2. Celtic Migrations 1. Indo European Migrations 2. Bell Beaker Migrations 3. Irish Inbound and Outbound Migrations 3. Irish Reference Genome 1. Population Genetics Studies 2. Vendor Population Genetics 3. Citizen Science Engagement

Gerard Corcoran Irish Reference Genome

1. Genes mirror geography 2. People off the 3. Irish DNA Atlas 4. Irish Insular Genome 5. Genetic history of France 6. Genetics of the Vikings 7. AncestryDNA Communities 8. Living DNA Reference Genome 9. ISOGG and FTDNA 10.Irish Reference Genome

Gerard Corcoran Direct to Consumer DNA Testing Test ADN direct au consommateur

Leah Larkin Direct to Consumer Genetics Nearly 40 million consumers have bought DTC tests Près de 40 millions de consommateurs ont acheté des tests DTC

20 Million+ 10 Million+ 5 Million+ 2 Million+

1 Million+ X Thousand+ 1 Million+

3 Million+

X Thousand+ X Thousand+ X Thousand+

Gerard Corcoran X Thousand+ Structure de la population en Europe The fine-scale genetic structure of the British population Leslie et al. (2015) La structure génétique à petite échelle de la population britannique Leslie et al. 2039 Samples (4 x G parents), 6209 EU Samples

Examples of fine-scale differentiation include the separation of: islands within Orkney; Devon from Cornwall; and the Welsh/English borders from surrounding areas. The edges between clusters follow natural geographical boundaries in some instances, for example,between Devon and Cornwall (bound aries the Tamar Estuary and Bodmin Moor), and Orkney is separated by sea from . However, in many instances clusters span geographic boundaries; for example, the clusters in span the sea to Scotland. Peopling of the Isles, Peuplement des îles Irish DNA Atlas Atlas d'ADN irlandais RCSI and GSI

The Irish DNA Atlas is an ongoing genetic study of the Irish population. The project aims to describe patterns in Irish DNA, in the context of European and global genetic diversity. The work informs on the history of the Irish population. It can be used to aid efforts to better understand the role of DNA in disease. The Irish DNA Atlas is a collaboration between the Royal College of Surgeons in Ireland and the Genealogical Society of Ireland.

RCSI and GSI The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland L'Atlas de l'ADN irlandais: Révéler la structure et l'histoire de la population à petite échelle en Irlande (Gilbert et al) 2017 (536 Samples)

RCSI and GSI A comprehensive description of population structure across Britain and Ireland. Une description complète de la structure de la population en Grande-Bretagne et en Irlande

Edmund Gilbert et al. PNAS 2019;116:38:19064-19070

©2019 by National Academy of Sciences Insular Celtic population structure and genomic footprints of migration. Byrne et al. (2018) Structure de la population celtique insulaire et empreintes génomiques de la migration. 1035 Samples

Byrne RP, Martiniano R, Cassidy LM, Carrigan M, Hellenthal G, et al. (2018) Insular Celtic population structure and genomic footprints of migration. PLOS Genetics 14(1): e1007152. https://doi.org/10.1371/journal.pgen.1007152 http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007152

7Byrne et al. Genes Mirror Geography in the Isles Les gènes reflètent la géographie dans les îles

Our results show that population structure is detectable on the island of Ireland and is consistent with a combination of the homogenizing effect of geographically punctuated admixture and diversification among Celtic subpopulations. The inclusion of Irish data with British samples from the PoBI study provides an anchor for Celtic ancestry in the British Isles, filling out the genetic landscape of the islands. The Genetic History of France, (St Pierre et al), 2020 L'histoire génétique de la France 2184 Samples

Using FineStructure, six different genetic clusters of individuals were found that were very consistent between the two cohorts. These clusters match extremely well the geography and overlap with historical and linguistic divisions of France. By modeling the relationship between genetics and geography using EEMS software, we were able to detect gene flow barriers that are similar in the two cohorts and corresponds to major French rivers or mountains.

Geographic distribution of ethnic features in France Répartition géographique des caractéristiques ethniques en France Eupedia This map shows an estimation of the dominant ancestry in each region of France based on anthropological studies. Will DNA confirm this general pattern? Here is a summary of Y-DNA haplogroups found in France, and the ancient ethnicities associated with them :

1. Germanic/Nordic : R1b-U106, I1, I2-L801 2. Gaulish Celtic : R1b-U152, R1b-L21, R1b-P312 3. Atlantic Celts : R1b-L21 4. Iberian Celts : R1b-DF27 5. Basque : R1b-DF27, R1b-M153 6. Roman : R1b-U152, R1b-L23, J2, G2a, E-M123 7. Greek : E1b1b, J2, R1b-L23, G2a, T1a, J1 Population genomics of the Viking world Génomique des populations du monde viking Willerslev et al. 2020. 442 Samples.

Top, distinct spheres of influence in the Viking world. Middle, Danish Viking ancestry in southern Britain, Norwegian Viking ancestry in Ireland and and non-Scandinavian (‘North Atlantic’) ancestry in Orkney, Ireland and southern Britain. Clustering of 770,000 genomes reveals post-colonial population structure of North America Le regroupement de 770 000 génomes révèle la structure de la population postcoloniale de l'Amérique du Nord AncestryDNA, Sample = 770,000

AncestryDNA AncestryDNA – Genetic Communities Communautés génétiques d'Ancestry DNA AncestryDNA Genetic Communities Communautés génétiques d'Ancestry DNA AncestryDNA Genetic Communities Communautés génétiques d'Ancestry DNA

The devastated : 30 % of its residents either died or emigrated. Those who couldn’t support themselves often entered the infamous workhouses— Mayo alone had nine. The Living DNA Irish research project Le projet de recherche irlandais Living DNA

Living DNA ISOGG, Irish Reference Genome ISOGG, génome de référence irlandais Y DNA, mtDNA, aDNA, STR, SNP, NGS, FGS

https://www.pinterest.ie/gerardcorcoran/irish-reference-genome/ Incidence of L21 in Europe Incidence de L21 en Europe

Germanic Celtic

The phylogenealogy of R-L21, Dr. Joe Flood Isles Atlantic/Iberia Continental/Gaul SNP Frequencies in Ireland Fréquences SNP en Irlande

SNP Frequencies in Ireland: Gerard Corcoran, Surname Origins Irish Reference Genome, Génome de référence irlandais Ancestry DNA have 92 Reference Regions in Ireland Irish DNA Atlas Insular Genome Ancestry DNA Living DNA ISOGG / FTDNA Ireland Munster Munster Munster Munster Munster S Munster Cork Cork Desmond Cork Kerry S Munster Kerry Desmond Kerry S Munster Limerick Limerick and Kerry Desmond Clare N Munster Clare Clare Tipperary N Munster Tipperary Tipperary Ormond Waterford Ormond Connacht Connacht Connacht Connacht Connacht Galway Connacht Galway Galway S Connacht Galway Mayo Connacht Mayo N Connacht Mayo Connacht Sligo Breifne Leitrim Connacht Leitrim Breifne Connacht Roscommon N Connacht Leinster Leinster Leinster Leinster Dublin Dublin Dublin Dublin Dublin Kildare Kildare Kildare Kildare Offaly Offaly Offaly Kildare Laois Laois Kildare Wicklow Leinster Wexford Wexford Leinster Carlow Leinster Kilkenny Leinster Meath C Ireland Meath Mide Westmeath C Ireland Westmeath Mide C Ireland Longford Mide Ulster Ulster Ulster Ulster Antrim N Ireland 1 Antrim E Ulster Down N Ireland 1 Down E Ulster Derry Oriel N Ireland 3 Fermanagh Oriel Fermanagh Tyrone N Ireland 2 Tyrone Oriel N Ireland 2 Armagh Oriel Monaghan Ulster Monaghan Oriel Ulster NW Donegal Ailech Donegal Ulster Cavan Oriel National Genome Banks and Projects