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14.4. Insights into human genetic variation and population history from 929 diverse genomes

A Bergstrom , SA McCarthy , R Hui , MA Almarri , Q Ayub , P Danecek , Y Chen , S Felkel , P Hallast , J Kamm , H Blanche , JF Deleuze , H Cann , S Mallick , D Reich , MS Sandhu , P Skoglund , A Scally , Y Xue , R Durbin , C Tyler-Smith

To read the full abstract: Science 2020; 367(6484):eaay5012.These authors sequenced 929 whole-genome sequences from 54 geographically, linguistically, and culturally diverse human populations, as part of the Human Genome Diversity Project, a panel of global populations. The data represent African, Oceanian, and American-Indian populations. They identified 67.3 million single-nucleotide polymorphisms (SNPs), 8.8 million small insertions or deleti...

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ey0021.6-10 | New Clinical Insights into Klinefelter Syndrome | ESPEYB21

6.10. Detection of chromosomal aneuploidy in ancient genomes

K Anastasiadou , M Silva , T Booth , L Speidel , T Audsley , C Barrington , J Buckberry , D Fernandes , B Ford , M Gibson , A Gilardet , I Glocke , K Keefe , M Kelly , M Masters , J McCabe , L McIntyre , P Ponce , S Rowland , J Ruiz Ventura , P Swali , F Tait , D Walker , H Webb , M Williams , A Witkin , M Holst , L Loe , I Armit , R Schulting , P Skoglund

Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach indepe...

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ESPE Yearbook of Paediatric Endocrinology

14.4. Insights into human genetic variation and population history from 929 diverse genomes

6.10. Detection of chromosomal aneuploidy in ancient genomes

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