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Research Publication

Tracing human genetic histories and natural selection with precise local ancestry inference.

Lerga-Jaso Jon, J Novković, Biljana B et al.

40379651 PubMed ID
24 Authors
2025-05-16 Published
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

LJ
Lerga-Jaso Jon
JN
J Novković
BB
Biljana B
UD
Unnikrishnan Deepu
DB
D Bamunusinghe
VV
Varuna V
HM
Hatorangan Marcelinus R
MM
MR Manson
CC
Charlie C
PH
Pedersen Haley
HO
H Osama
AA
Alex A
TA
Terpolovsky Andrew
AB
A Bohn
SS
Sandra S
DM
De Marino Adriano
AM
A Mahmoud
AA
Abdallah A AA
BK
Bircan Karatuğ O
KK
KO Khan
UU
Umar U
GM
Grabherr Manfred G
MY
MG Yazdi
PG
Puya G PG
Chapter II

Abstract

Summary of the research findings

Local ancestry inference is crucial for unraveling demographic histories, discovering selection signals, and including admixed individuals in genomic studies for improved equity and portability. To date, the precision and resolution of local ancestry inference were limited by technical and dataset issues. To address them, we present Orchestra, a model we train on over 10,000 single-origin individuals from 35 worldwide populations that demonstrates superior accuracy in benchmarking analyzes. We employ Orchestra to shed light on the demographic history of Latin Americans, finding trace ancestries supported by historical records. We then deploy it to offer insight on the debated Ashkenazi Jewish origins, highlighting their South European heritage. Finally, Orchestra enables us to map selection signatures, identifying trace Scandinavian ancestry in British samples and unveiling an immune-rich region linked to respiratory infections passed down from the Viking conquests. Our work significantly advances the field of local ancestry inference, highlighting its use in admixed populations.

Chapter III

Analysis

Comprehensive review of ancestry and genetic findings

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Summary

Key Findings

Ancestry Insights

Traits Analysis

Historical Context

Scientific Assessment