Detection of chromosomal aneuploidy in ancient genomes

Abstract Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyoty...
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Autor*in:	Kyriaki Anastasiadou [verfasserIn] Marina Silva [verfasserIn] Thomas Booth [verfasserIn] Leo Speidel [verfasserIn] Tony Audsley [verfasserIn] Christopher Barrington [verfasserIn] Jo Buckberry [verfasserIn] Diana Fernandes [verfasserIn] Ben Ford [verfasserIn] Mark Gibson [verfasserIn] Alexandre Gilardet [verfasserIn] Isabelle Glocke [verfasserIn] Katie Keefe [verfasserIn] Monica Kelly [verfasserIn] Mackenzie Masters [verfasserIn] Jesse McCabe [verfasserIn] Lauren McIntyre [verfasserIn] Paola Ponce [verfasserIn] Stephen Rowland [verfasserIn] Jordi Ruiz Ventura [verfasserIn] Pooja Swali [verfasserIn] Frankie Tait [verfasserIn] David Walker [verfasserIn] Helen Webb [verfasserIn] Mia Williams [verfasserIn] Annsofie Witkin [verfasserIn] Malin Holst [verfasserIn] Louise Loe [verfasserIn] Ian Armit [verfasserIn] Rick Schulting [verfasserIn] Pontus Skoglund [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2024

Übergeordnetes Werk:	In: Communications Biology - Nature Portfolio, 2018, 7(2024), 1, Seite 9
Übergeordnetes Werk:	volume:7 ; year:2024 ; number:1 ; pages:9

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1038/s42003-023-05642-z

Katalog-ID:	DOAJ097652407

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allfields	10.1038/s42003-023-05642-z doi (DE-627)DOAJ097652407 (DE-599)DOAJ17f9317067dc416f9d03628c91296fd5 DE-627 ger DE-627 rakwb eng QH301-705.5 Kyriaki Anastasiadou verfasserin aut Detection of chromosomal aneuploidy in ancient genomes 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits. Biology (General) Marina Silva verfasserin aut Thomas Booth verfasserin aut Leo Speidel verfasserin aut Tony Audsley verfasserin aut Christopher Barrington verfasserin aut Jo Buckberry verfasserin aut Diana Fernandes verfasserin aut Ben Ford verfasserin aut Mark Gibson verfasserin aut Alexandre Gilardet verfasserin aut Isabelle Glocke verfasserin aut Katie Keefe verfasserin aut Monica Kelly verfasserin aut Mackenzie Masters verfasserin aut Jesse McCabe verfasserin aut Lauren McIntyre verfasserin aut Paola Ponce verfasserin aut Stephen Rowland verfasserin aut Jordi Ruiz Ventura verfasserin aut Pooja Swali verfasserin aut Frankie Tait verfasserin aut David Walker verfasserin aut Helen Webb verfasserin aut Mia Williams verfasserin aut Annsofie Witkin verfasserin aut Malin Holst verfasserin aut Louise Loe verfasserin aut Ian Armit verfasserin aut Rick Schulting verfasserin aut Pontus Skoglund verfasserin aut In Communications Biology Nature Portfolio, 2018 7(2024), 1, Seite 9 (DE-627)101369080X 23993642 nnns volume:7 year:2024 number:1 pages:9 https://doi.org/10.1038/s42003-023-05642-z kostenfrei https://doaj.org/article/17f9317067dc416f9d03628c91296fd5 kostenfrei https://doi.org/10.1038/s42003-023-05642-z kostenfrei https://doaj.org/toc/2399-3642 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2024 1 9
spelling	10.1038/s42003-023-05642-z doi (DE-627)DOAJ097652407 (DE-599)DOAJ17f9317067dc416f9d03628c91296fd5 DE-627 ger DE-627 rakwb eng QH301-705.5 Kyriaki Anastasiadou verfasserin aut Detection of chromosomal aneuploidy in ancient genomes 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits. Biology (General) Marina Silva verfasserin aut Thomas Booth verfasserin aut Leo Speidel verfasserin aut Tony Audsley verfasserin aut Christopher Barrington verfasserin aut Jo Buckberry verfasserin aut Diana Fernandes verfasserin aut Ben Ford verfasserin aut Mark Gibson verfasserin aut Alexandre Gilardet verfasserin aut Isabelle Glocke verfasserin aut Katie Keefe verfasserin aut Monica Kelly verfasserin aut Mackenzie Masters verfasserin aut Jesse McCabe verfasserin aut Lauren McIntyre verfasserin aut Paola Ponce verfasserin aut Stephen Rowland verfasserin aut Jordi Ruiz Ventura verfasserin aut Pooja Swali verfasserin aut Frankie Tait verfasserin aut David Walker verfasserin aut Helen Webb verfasserin aut Mia Williams verfasserin aut Annsofie Witkin verfasserin aut Malin Holst verfasserin aut Louise Loe verfasserin aut Ian Armit verfasserin aut Rick Schulting verfasserin aut Pontus Skoglund verfasserin aut In Communications Biology Nature Portfolio, 2018 7(2024), 1, Seite 9 (DE-627)101369080X 23993642 nnns volume:7 year:2024 number:1 pages:9 https://doi.org/10.1038/s42003-023-05642-z kostenfrei https://doaj.org/article/17f9317067dc416f9d03628c91296fd5 kostenfrei https://doi.org/10.1038/s42003-023-05642-z kostenfrei https://doaj.org/toc/2399-3642 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2024 1 9
allfields_unstemmed	10.1038/s42003-023-05642-z doi (DE-627)DOAJ097652407 (DE-599)DOAJ17f9317067dc416f9d03628c91296fd5 DE-627 ger DE-627 rakwb eng QH301-705.5 Kyriaki Anastasiadou verfasserin aut Detection of chromosomal aneuploidy in ancient genomes 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits. Biology (General) Marina Silva verfasserin aut Thomas Booth verfasserin aut Leo Speidel verfasserin aut Tony Audsley verfasserin aut Christopher Barrington verfasserin aut Jo Buckberry verfasserin aut Diana Fernandes verfasserin aut Ben Ford verfasserin aut Mark Gibson verfasserin aut Alexandre Gilardet verfasserin aut Isabelle Glocke verfasserin aut Katie Keefe verfasserin aut Monica Kelly verfasserin aut Mackenzie Masters verfasserin aut Jesse McCabe verfasserin aut Lauren McIntyre verfasserin aut Paola Ponce verfasserin aut Stephen Rowland verfasserin aut Jordi Ruiz Ventura verfasserin aut Pooja Swali verfasserin aut Frankie Tait verfasserin aut David Walker verfasserin aut Helen Webb verfasserin aut Mia Williams verfasserin aut Annsofie Witkin verfasserin aut Malin Holst verfasserin aut Louise Loe verfasserin aut Ian Armit verfasserin aut Rick Schulting verfasserin aut Pontus Skoglund verfasserin aut In Communications Biology Nature Portfolio, 2018 7(2024), 1, Seite 9 (DE-627)101369080X 23993642 nnns volume:7 year:2024 number:1 pages:9 https://doi.org/10.1038/s42003-023-05642-z kostenfrei https://doaj.org/article/17f9317067dc416f9d03628c91296fd5 kostenfrei https://doi.org/10.1038/s42003-023-05642-z kostenfrei https://doaj.org/toc/2399-3642 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2024 1 9
allfieldsGer	10.1038/s42003-023-05642-z doi (DE-627)DOAJ097652407 (DE-599)DOAJ17f9317067dc416f9d03628c91296fd5 DE-627 ger DE-627 rakwb eng QH301-705.5 Kyriaki Anastasiadou verfasserin aut Detection of chromosomal aneuploidy in ancient genomes 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits. Biology (General) Marina Silva verfasserin aut Thomas Booth verfasserin aut Leo Speidel verfasserin aut Tony Audsley verfasserin aut Christopher Barrington verfasserin aut Jo Buckberry verfasserin aut Diana Fernandes verfasserin aut Ben Ford verfasserin aut Mark Gibson verfasserin aut Alexandre Gilardet verfasserin aut Isabelle Glocke verfasserin aut Katie Keefe verfasserin aut Monica Kelly verfasserin aut Mackenzie Masters verfasserin aut Jesse McCabe verfasserin aut Lauren McIntyre verfasserin aut Paola Ponce verfasserin aut Stephen Rowland verfasserin aut Jordi Ruiz Ventura verfasserin aut Pooja Swali verfasserin aut Frankie Tait verfasserin aut David Walker verfasserin aut Helen Webb verfasserin aut Mia Williams verfasserin aut Annsofie Witkin verfasserin aut Malin Holst verfasserin aut Louise Loe verfasserin aut Ian Armit verfasserin aut Rick Schulting verfasserin aut Pontus Skoglund verfasserin aut In Communications Biology Nature Portfolio, 2018 7(2024), 1, Seite 9 (DE-627)101369080X 23993642 nnns volume:7 year:2024 number:1 pages:9 https://doi.org/10.1038/s42003-023-05642-z kostenfrei https://doaj.org/article/17f9317067dc416f9d03628c91296fd5 kostenfrei https://doi.org/10.1038/s42003-023-05642-z kostenfrei https://doaj.org/toc/2399-3642 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2024 1 9
allfieldsSound	10.1038/s42003-023-05642-z doi (DE-627)DOAJ097652407 (DE-599)DOAJ17f9317067dc416f9d03628c91296fd5 DE-627 ger DE-627 rakwb eng QH301-705.5 Kyriaki Anastasiadou verfasserin aut Detection of chromosomal aneuploidy in ancient genomes 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits. Biology (General) Marina Silva verfasserin aut Thomas Booth verfasserin aut Leo Speidel verfasserin aut Tony Audsley verfasserin aut Christopher Barrington verfasserin aut Jo Buckberry verfasserin aut Diana Fernandes verfasserin aut Ben Ford verfasserin aut Mark Gibson verfasserin aut Alexandre Gilardet verfasserin aut Isabelle Glocke verfasserin aut Katie Keefe verfasserin aut Monica Kelly verfasserin aut Mackenzie Masters verfasserin aut Jesse McCabe verfasserin aut Lauren McIntyre verfasserin aut Paola Ponce verfasserin aut Stephen Rowland verfasserin aut Jordi Ruiz Ventura verfasserin aut Pooja Swali verfasserin aut Frankie Tait verfasserin aut David Walker verfasserin aut Helen Webb verfasserin aut Mia Williams verfasserin aut Annsofie Witkin verfasserin aut Malin Holst verfasserin aut Louise Loe verfasserin aut Ian Armit verfasserin aut Rick Schulting verfasserin aut Pontus Skoglund verfasserin aut In Communications Biology Nature Portfolio, 2018 7(2024), 1, Seite 9 (DE-627)101369080X 23993642 nnns volume:7 year:2024 number:1 pages:9 https://doi.org/10.1038/s42003-023-05642-z kostenfrei https://doaj.org/article/17f9317067dc416f9d03628c91296fd5 kostenfrei https://doi.org/10.1038/s42003-023-05642-z kostenfrei https://doaj.org/toc/2399-3642 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2024 1 9
language	English
source	In Communications Biology 7(2024), 1, Seite 9 volume:7 year:2024 number:1 pages:9
sourceStr	In Communications Biology 7(2024), 1, Seite 9 volume:7 year:2024 number:1 pages:9
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Biology (General)
isfreeaccess_bool	true
container_title	Communications Biology
authorswithroles_txt_mv	Kyriaki Anastasiadou @@aut@@ Marina Silva @@aut@@ Thomas Booth @@aut@@ Leo Speidel @@aut@@ Tony Audsley @@aut@@ Christopher Barrington @@aut@@ Jo Buckberry @@aut@@ Diana Fernandes @@aut@@ Ben Ford @@aut@@ Mark Gibson @@aut@@ Alexandre Gilardet @@aut@@ Isabelle Glocke @@aut@@ Katie Keefe @@aut@@ Monica Kelly @@aut@@ Mackenzie Masters @@aut@@ Jesse McCabe @@aut@@ Lauren McIntyre @@aut@@ Paola Ponce @@aut@@ Stephen Rowland @@aut@@ Jordi Ruiz Ventura @@aut@@ Pooja Swali @@aut@@ Frankie Tait @@aut@@ David Walker @@aut@@ Helen Webb @@aut@@ Mia Williams @@aut@@ Annsofie Witkin @@aut@@ Malin Holst @@aut@@ Louise Loe @@aut@@ Ian Armit @@aut@@ Rick Schulting @@aut@@ Pontus Skoglund @@aut@@
publishDateDaySort_date	2024-01-01T00:00:00Z
hierarchy_top_id	101369080X
id	DOAJ097652407
language_de	englisch
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author	Kyriaki Anastasiadou
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topic_title	QH301-705.5 Detection of chromosomal aneuploidy in ancient genomes
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title	Detection of chromosomal aneuploidy in ancient genomes
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title_full	Detection of chromosomal aneuploidy in ancient genomes
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author_browse	Kyriaki Anastasiadou Marina Silva Thomas Booth Leo Speidel Tony Audsley Christopher Barrington Jo Buckberry Diana Fernandes Ben Ford Mark Gibson Alexandre Gilardet Isabelle Glocke Katie Keefe Monica Kelly Mackenzie Masters Jesse McCabe Lauren McIntyre Paola Ponce Stephen Rowland Jordi Ruiz Ventura Pooja Swali Frankie Tait David Walker Helen Webb Mia Williams Annsofie Witkin Malin Holst Louise Loe Ian Armit Rick Schulting Pontus Skoglund
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title_sort	detection of chromosomal aneuploidy in ancient genomes
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title_auth	Detection of chromosomal aneuploidy in ancient genomes
abstract	Abstract Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits.
abstractGer	Abstract Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits.
abstract_unstemmed	Abstract Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits.
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title_short	Detection of chromosomal aneuploidy in ancient genomes
url	https://doi.org/10.1038/s42003-023-05642-z https://doaj.org/article/17f9317067dc416f9d03628c91296fd5 https://doaj.org/toc/2399-3642
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Detection of chromosomal aneuploidy in ancient genomes

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