TY - JOUR
T1 - Estimating effective population size trajectories from time-series identity-by-descent segments
AU - Huang, Yilei
AU - Carmi, Shai
AU - Ringbauer, Harald
N1 - Publisher Copyright:
© The Author(s) 2025.
PY - 2025/3/1
Y1 - 2025/3/1
N2 - Long, identical haplotypes shared between pairs of individuals, known as identity-by-descent (IBD) segments, result from recently shared co-ancestry. Various methods have been developed to utilize IBD sharing for demographic inference in contemporary DNA data. Recent methodological advances have extended the screening for IBD segments to ancient DNA (aDNA) data, making demographic inference based on IBD also possible for aDNA. However, aDNA data typically have varying sampling times, but most demographic inference methods for modern data assume that sampling is contemporaneous. Here, we present TTNE (Time-Transect Ne), which models time-transect sampling to infer recent effective population size trajectories. Using simulations, we show that utilizing IBD sharing in time series increased resolution to infer recent fluctuations in effective population sizes compared with methods that only use contemporaneous samples. To account for IBD detection errors common in empirical analyses, we implemented an approach to estimate and model IBD detection errors. Finally, we applied TTNE to two aDNA time transects: individuals associated with the Copper Age Corded Ware Culture and Medieval England. In both cases, we found evidence of a growing population, a signal consistent with archaeological records.
AB - Long, identical haplotypes shared between pairs of individuals, known as identity-by-descent (IBD) segments, result from recently shared co-ancestry. Various methods have been developed to utilize IBD sharing for demographic inference in contemporary DNA data. Recent methodological advances have extended the screening for IBD segments to ancient DNA (aDNA) data, making demographic inference based on IBD also possible for aDNA. However, aDNA data typically have varying sampling times, but most demographic inference methods for modern data assume that sampling is contemporaneous. Here, we present TTNE (Time-Transect Ne), which models time-transect sampling to infer recent effective population size trajectories. Using simulations, we show that utilizing IBD sharing in time series increased resolution to infer recent fluctuations in effective population sizes compared with methods that only use contemporaneous samples. To account for IBD detection errors common in empirical analyses, we implemented an approach to estimate and model IBD detection errors. Finally, we applied TTNE to two aDNA time transects: individuals associated with the Copper Age Corded Ware Culture and Medieval England. In both cases, we found evidence of a growing population, a signal consistent with archaeological records.
KW - ancient DNA
KW - bioinformatics
KW - evolutionary biology
KW - population genetics
KW - statistical genetics
UR - http://www.scopus.com/inward/record.url?scp=105000357479&partnerID=8YFLogxK
U2 - 10.1093/genetics/iyae212
DO - 10.1093/genetics/iyae212
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C2 - 39854269
AN - SCOPUS:105000357479
SN - 0016-6731
VL - 229
JO - Genetics
JF - Genetics
IS - 3
M1 - iyae212
ER -