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Nature Methods|August 1, 2009
Statistical methods for analysis of high-throughput RNA interference screensAmanda Birmingham, Laura M Selfors, Thorsten Forster, et al.American Journal of Human Genetics|August 4, 2018
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian CancerD Gareth R Evans, Elke M van Veen, Helen J Byers, et al.Scientific Reports|July 31, 2019
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohortShona M Kerr, Lucija Klaric, Mihail Halachev, et al.Nature Communications|August 18, 2016
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)Julien Lagarde, Barbara Uszczynska-Ratajczak, Javier Santoyo-Lopez, et al.Pediatric Pulmonology|August 8, 2024
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesiaHolly A Black, Sophie Marion de Proce, Jose L Campos, et al.European Journal of Human Genetics : EJHG|December 6, 2022
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testingLynne J Hocking, Claire Andrews, Christine Armstrong, et al.Journal of Medical Genetics|October 9, 2023
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeAnthony M Vandersteen, Ruwan A Weerakkody, David A Parry, et al.European Journal of Human Genetics : EJHG|August 5, 2026
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome projectPrasun Dutta, Alistair T Pagnamenta, Christelle Robert, et al.Nature|June 26, 2020
Pervasive lesion segregation shapes cancer genome evolutionSarah J Aitken, Craig J Anderson, Frances Connor, et al.Nature|July 22, 2026
Genetic background sets the trajectory of experimental cancer evolutionSarah J Aitken, Frances Connor, Christine Feig, et al.Pageof 3