Exome sequencing of UK birth cohorts DOI Creative Commons
Mahmoud Koko, Laurie Fabian, Iaroslav Popov

et al.

Wellcome Open Research, Journal Year: 2024, Volume and Issue: 9, P. 390 - 390

Published: Dec. 5, 2024

Birth cohort studies involve repeated surveys of large numbers individuals from birth and throughout their lives. They collect information useful for a wide range life course research domains, biological samples which can be used to derive data an increasing collection omic technologies. This rich source longitudinal data, when combined with genomic offers the scientific community valuable insights ranging population genetics applications across social sciences. Here we present quality-controlled whole exome sequencing three UK cohorts: Avon Longitudinal Study Parents Children (8,436 children 3,215 parents), Millenium Cohort (7,667 6,925 parents) Born in Bradford (8,784 2,875 parents). The overall objective this coordinated effort is make resulting high-quality widely accessible global timely manner. We describe how datasets were generated subjected quality control at sample, variant genotype level. then some preliminary analyses illustrate probe potential sources bias. introduce measures ultra-rare burden variables available researchers working on these cohorts, show that exome-wide deleterious protein-truncating variants, S het burden, associated educational attainment cognitive test scores. sequence cohorts (CRAM & VCF files) are through European Genome-Phenome Archive, here provide guidance use.

Language: Английский

Exome sequencing of UK birth cohorts DOI Creative Commons
Mahmoud Koko, Laurie Fabian, Iaroslav Popov

et al.

Wellcome Open Research, Journal Year: 2024, Volume and Issue: 9, P. 390 - 390

Published: Dec. 5, 2024

Birth cohort studies involve repeated surveys of large numbers individuals from birth and throughout their lives. They collect information useful for a wide range life course research domains, biological samples which can be used to derive data an increasing collection omic technologies. This rich source longitudinal data, when combined with genomic offers the scientific community valuable insights ranging population genetics applications across social sciences. Here we present quality-controlled whole exome sequencing three UK cohorts: Avon Longitudinal Study Parents Children (8,436 children 3,215 parents), Millenium Cohort (7,667 6,925 parents) Born in Bradford (8,784 2,875 parents). The overall objective this coordinated effort is make resulting high-quality widely accessible global timely manner. We describe how datasets were generated subjected quality control at sample, variant genotype level. then some preliminary analyses illustrate probe potential sources bias. introduce measures ultra-rare burden variables available researchers working on these cohorts, show that exome-wide deleterious protein-truncating variants, S het burden, associated educational attainment cognitive test scores. sequence cohorts (CRAM & VCF files) are through European Genome-Phenome Archive, here provide guidance use.

Language: Английский

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