Eight quick tips for including chromosome X in genome-wide association studies DOI Creative Commons
Justin Bellavance, Linda R. Wang, Sarah A. Gagliano Taliun

и другие.

PLoS Computational Biology, Год журнала: 2024, Номер 20(6), С. e1012160 - e1012160

Опубликована: Июнь 6, 2024

All individuals carry a minimum of 1 copy chromosome X.Despite being relatively long with more than 150 million base pairs [1], similar in length to 8, association testing genetic variants on X is still not routinely conducted.Genome-wide studies (GWAS) have been used identify vast range genomic loci interest for variety complex human diseases and traits by quantifying that are statistically associated given disease/trait [2,3].However, lack the limits our ability vital subsequently understand potential mechanisms linked this chromosome.There was call inclusion into genome-wide analyses presented 2013.At time, scan published GWAS from 2010 2011 showed only 33% had tested their [4].Despite inclusion, representation has improved according 2023 study.Of 136 publications submitted at least summary statistics file NHGRI-EBI Catalog 2021, 25% reported results [5].Indeed, there several characteristics make it unique compared autosomes, which can pose analytical challenges testing.Such include how account inactivation an XX karyotype, model hemizygous state genotypes XY or best code 2 pseudo-autosomal regions, short stretches either end high homology Y chromosome, known as PAR1 PAR2.The non-pseudo-autosomal region (nonPAR) denotes middle sequence chromosome.Furthermore, many well-used software take input ignore information [6,7].This practice difficult unintuitive researchers run chromosome.Inclusion downstream will serve enhance understanding contributors traits.Here, we propose 8 tips help move towards provide suggested set concrete actions be taken overcome obstacles preventing routine analysis chromosome.

Язык: Английский

The battle of the sexes in humans is highly polygenic DOI Creative Commons
Jared M. Cole, Carly B. Scott, Mackenzie M. Johnson

и другие.

Proceedings of the National Academy of Sciences, Год журнала: 2024, Номер 121(39)

Опубликована: Сен. 20, 2024

Sex-differential selection (SDS), which occurs when the fitness effects of alleles differ between males and females, can have profound impacts on maintenance genetic variation, disease risk, other key aspects natural populations. Because sexes mix their autosomal genomes each generation, quantifying SDS is not possible using conventional population approaches. Here, we introduce a method that exploits subtle sex differences in haplotype frequencies resulting from acting current generation. Using data 300K individuals UK Biobank, estimate strength throughout genome. While only handful loci under are individually significant, uncover highly polygenic signals genome-wide for both viability fecundity. Selection coefficients s = 10 - 3 may be typical. Despite its ubiquity, impose mortality load less than 1%. An interesting life-history tradeoff emerges: Alleles increase more strongly females tend to fecundity females. Finally, find marginal evidence affecting arm fat-free mass. Taken together, our findings connect long-standing human phenotypes with impact

Язык: Английский

Процитировано

2
Chromosome X-wide common variant association study in autism spectrum disorder DOI
Marla Mendes de Aquino, D. Chen, Worrawat Engchuan

и другие.

The American Journal of Human Genetics, Год журнала: 2024, Номер unknown

Опубликована: Дек. 1, 2024

Язык: Английский

Процитировано

2
Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder DOI
Marla Mendes de Aquino, D. Chen, Worrawat Engchuan

и другие.

medRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Июль 18, 2024

Autism Spectrum Disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes ASD pathogenesis, such as

Язык: Английский

Процитировано

1
Eight quick tips for including chromosome X in genome-wide association studies DOI Creative Commons
Justin Bellavance, Linda R. Wang, Sarah A. Gagliano Taliun

и другие.

PLoS Computational Biology, Год журнала: 2024, Номер 20(6), С. e1012160 - e1012160

Опубликована: Июнь 6, 2024

All individuals carry a minimum of 1 copy chromosome X.Despite being relatively long with more than 150 million base pairs [1], similar in length to 8, association testing genetic variants on X is still not routinely conducted.Genome-wide studies (GWAS) have been used identify vast range genomic loci interest for variety complex human diseases and traits by quantifying that are statistically associated given disease/trait [2,3].However, lack the limits our ability vital subsequently understand potential mechanisms linked this chromosome.There was call inclusion into genome-wide analyses presented 2013.At time, scan published GWAS from 2010 2011 showed only 33% had tested their [4].Despite inclusion, representation has improved according 2023 study.Of 136 publications submitted at least summary statistics file NHGRI-EBI Catalog 2021, 25% reported results [5].Indeed, there several characteristics make it unique compared autosomes, which can pose analytical challenges testing.Such include how account inactivation an XX karyotype, model hemizygous state genotypes XY or best code 2 pseudo-autosomal regions, short stretches either end high homology Y chromosome, known as PAR1 PAR2.The non-pseudo-autosomal region (nonPAR) denotes middle sequence chromosome.Furthermore, many well-used software take input ignore information [6,7].This practice difficult unintuitive researchers run chromosome.Inclusion downstream will serve enhance understanding contributors traits.Here, we propose 8 tips help move towards provide suggested set concrete actions be taken overcome obstacles preventing routine analysis chromosome.

Язык: Английский

Процитировано

0