Tag: Exome
UK Biobank Released Final Data from the World’s Largest Whole Exome Sequencing Project
UK Biobank has added the final tranche of exome sequencing data to its research database. This represents the completion of cohort-wide exome sequencing for over 470,000 participants within the UK Biobank resource. These de-identified data can now be accessed...
Predicting Phenotype Of Gene Variation Towards Improved Understanding Of Human Health
Many rare diseases are causally related to rare genetic variants and a plethora of research surrounds the genetic basis and treatment of these, however less is known about the effect rare variants could have on subclinical conditions and non-clinical...
Take A Second Look – Variation In Some UK Biobank Genes May Not Be...
Recently it has been revealed that thousands of gene variants in the UK Biobank (UKB) exome data have been overlooked due to errors in sequence processing. Unfortunately, two independent UKB sequence processing pipelines contained errors that effect variant calling....
