The Future of Genetic Genealogy 2014 Forecast
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1 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 1 The Future of Genetic Genealogy 2014 Forecast Brad Larkin Sponsored by GeneticHomeland.com Prepared for the Genetic Genealogy Ireland Conference 2014
2 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 2 Overview The growth of genetic genealogy has been rapid but exciting new possibilities are forecast from several major developments: 1. Sampling coverage to approach 100% of the genetic lineages of Ireland and the British Isles 2. Continued expansion of the number of markers commercially feasible to test 3. Growth of reference databases with phased results integrated with pedigrees and geography These elements in combination will one day allow an individual's raw test results to be linked to an established genetic lineage and its ancestral geography in a matter of moments. This discussion is intended for those interested in science, technology, and how genetic genealogy will develop as a field.
3 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 3 DNA Sampling Coverage The number of lineages and the number of variations in those lineages is finite. => Sampling coverage will approach 100% of the genetic lineages in heavily sampled areas. Ireland and the British Isles. John McEwan, R1b SNP Diagram, 2006
4 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 4 DNA Lineage Variation Ireland Population History ~ 8000 bc First humans in Ireland ~ 2000 bc Arrival of R1b males ~ 1000 ad Viking era 2000 ad Genetic genealogy How close are we today to 100% Y-DNA lineage R, 87% Irish Mapping DNA Project (British Isles Origins) Frequency of Major Y-DNA Haplogroups E, 1% C, 1% I, 10% Q, 1% T, 1% coverage? Brad Larkin, Irish Mapping DNA Project, 2014
5 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 5 Coverage Measurement Hypothesis: for everyone still in the FTDNA database with no matches at 25 Y-STR markers, there is probably another lineage which has not been tested at all Illustrated with sample set chart from the Irish Mapping DNA Project Fairly random self-selection Screened for ancestral attribution to British Isles and at least 37 Y-STR markers n = 165 Critical Mass: most of the samples came in the past 3.5 years Portion of Samples 45% 40% 35% 30% 25% 20% 15% 10% 5% 0% Irish Mapping DNA Project Histogram of Y-DNA Kits by Year Kit Year of Sample Brad Larkin, Irish Mapping DNA Project, 2014
6 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 6 Match Count Distribution Histogram of Y-25 Match Count 1 Bimodal Shaped Distribution 5% of samples with NO 25 marker matches 13% < 3 matches 27% > 500 matches FTDNA overall 2 : 161,000 samples with Y-25 in Haplogroups I & R 4% have no Y-25 matches Frequency 50% 45% 40% 35% 30% 25% 20% 15% 10% 5% 0% Irish Mapping DNA Project (from British Isles with 37 or more markers) Haplotype Uniqueness Implied by Y-25 Match Count Number of Y-25 Matches 1 Brad Larkin, Irish Mapping DNA Project, Bennett Greenspan, Family Tree DNA, Sept 18, 2014 Suggests at least 95% lineage coverage in only 14 years of commercial testing
7 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 7 Autosomal Convergence Y-DNA More commercially established Easier analysis without recombination Map getting well-established Autosomal Testing Many times more DNA base pairs to measure Very early stages but growing rapidly Twice as many potential samples Needs chromosome mapping & phasing to be most genealogically meaningful Brad Larkin, Irish Mapping DNA Project, 2014 Sampling Coverage of Autosomal DNA testing for genetic genealogy will approach 100% one day as Y-DNA is doing Moving from survey to census Bennett Greenspan, FTDNA
8 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 8 Phasing Simplified Identify the ancestral source of pieces of Autosomal DNA Testing multiple persons with shared segment and ancestor-in-common Good references on phasing Whit Athey Phasing the Chromosomes of a Family Group When One Parent is Missing Dr. Tim Janzen Excel-based Phasing Program ISOGG Wiki on Phasing
9 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 9 Phasing Illustration FTDNA Chromosome Browser Sections of chromosomes that seem to be shared with up to 5 others. High level, impressionist phasing
10 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 10 Real Phasing Uses individual base pairs of autosomal DNA For best results: Test all available relatives parents, siblings, relatives, and cousins => phasing by inference as well as homozgosity and heterozygosity Whit Athey, Phasing the Chromosomes of a Family Group When One Parent is Missing, JOGG 2010.
11 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 11 Phasing Integrated with Genealogy Real world example of powerful genealogical insights from Tim Janzen s mapping work. Tim Janzen MD, Advanced Techniques for Use of Autosomal DNA Tests to Break through Genealogical Brick Walls,
12 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 12 Universal Human Phasing (UHP) As phasing coverage increases and we link it to genealogical pedigrees It gets very powerful. If every child born were mandated to get a genetic sequencing test Phased results along with those of parents and siblings => We will be able to phase the DNA of every ancestral person who ever lived and who has living descendants
13 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 13 The Path to UHP Drivers Health Care Cost Savings Genetically-targeted medicines & vaccines Integration with wearable, real-time health informatics Stages Persons Tested Persons Phased Phased Databases ENCyclopedia Of Dna Elements OECD Health Statistics 2013
14 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 14 Implications of UHP Traditional genealogy pedigrees become better informed key part in linking the phased results to our ancestors names & identities Even if we do not know their names, we would know the DNA segments of our ancestors The power to connect new participants to existing lineages becomes tremendous Ancient DNA tests of exhumed remains would provide even more insight into human migration
15 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 15 Moore s Law 1965 Article titled Cramming more components onto integrated circuits. The complexity for minimum component costs has increased at a rate of roughly a factor of two per year. Gordon E. Moore Co-founder of Intel Corporation Image by WG Simon,
16 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 16 Sequencers: Faster than Moore s Law Applied Biosystems AB370 Year: 1987 Technique: Sanger Size: 39x29x35, 396 lbs Cost: $2,400 / Mb Yield: 0.5 Mb per day 12 bases per sq inch per day Illumina HiSeq 2000 Year: 2010 Technique: Synthesis Method Size: 47x37x30 inches, 488 lbs Cost: $0.07 / Mb Yield: 750 Mb per day 14,376 bases per sq inch per day Future? NGS data output has increased at a rate that outpaces Moore's law -- more than doubling each year. technology.illumina.com
17 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 17 Reference Databases Commercial Genealogy DNA Testing Labs dbsnp U.S. Government Model Genealogical Databases University & Medical DNA Labs Atlas and Geographical Data Independent Databases
18 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 18 Database Dimensions Raw DNA Values SNPs, STRs Shared Segments Matches Phasing Analysis Ancestral Geography Where Do I Come From Mobile Platform
19 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 19 Instant Ancestry Field Meter Envision a portable DNA field sampler carry around your neck input sample material s a result report list with hyperlinks to your ancestors, available photos, & geographical locations Databases DNA Matches Pedigree Phasing Geography 1800 Knigh, Tipperary 1667 Lorrha, Tipperary 1585 Muinter Lorcán, Galway Device pictured is an Abbott i-stat Wireless
20 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 20 Available Now Freedom4 University of Otago, New Zealand PCR-based FBI moving to Next Generation Identification (NGI) systems and new database Trying to get laws changed to allow rapid testing (outside of accredited lab) Photo by Sharron Bennett, University of Otago
21 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 21 What Now? It will take time to get to the Instant Ancestry Field Meter. Instant coffee wasn t instantly discovered Practical solution in this generation is to sample as many people as possible It s a lot cheaper to test folks while they are still alive. All Available Family Ancestral Geography Your sampling documents the human tree ISOGG Y-DNA Haplogroup Tree : 4,115 SNPs 2014: 14,328 SNPs As resolution of phylogenetic SNP tree increases Number of markers that are phylogenetically meaningful reaches a plateau 1 Alice Fairhurst, ISOGG Y-DNA Haplotree Coordinator, 2014
22 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 22 Summary Future of Genetic Genealogy More DNA sequencing, performed faster, on smaller machines. Sampling coverage approaching 100% Bigger databases but integrated with more types of data.
23 October 18, 2014 Future of Genetic Genealogy by Brad Larkin Slide 23 Questions? The Future of Genetic Genealogy 2014 Forecast Brad Larkin Sponsored by GeneticHomeland.com
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