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Tracing decision points in the use of race, ethnicity and genetic ancestry as population descriptors in genomics research
Sandra Soo-Jin Lee will discuss an empirical study of the use of population descriptors in precision medicine research and decision points in which investigators substitute and combine race and/or ethnicity and genetic ancestry.
CRISPR activation to study splice-altering variants
Thorkild Terkelsen, MD, will discuss the diagnostic application of CRISPR activation to study the functional effect of splice-altering variants in easily accessible cells from individuals.
In vivo correction of human phenylketonuria variants via base and prime editing
Dominique Brooks will discuss pre-clinical data for two therapeutic leads for the treatment of phenylketonuria.
Identifying Disease Risk Through Newborn Genomic Sequencing
Dr. Shah and Ms. Genetti will discuss their paper, Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. The presentation will focus on the 3-5 year medical outcomes and actionability of unanticipated monogenic risks identified in newborns and their family members as part of a randomized controlled trial of newborn genomic sequencing.
The commonality of TSPEAR-related ARED14 sheds light on human origins
Dr. Adam Jackson, MBChB, MSc, MRCP, will discuss autosomal recessive ectodermal dysplasia type 14 caused by biallelic variants in TSPEAR. He will discuss a newly described cohort of individuals with ARED14 and outline the main presenting features whilst also exploring the evolutionary origins of several TSPEAR founder variants which may explain their high frequency in present day Europeans.
Exploring Patterns of Mosaicism in One Million People
Dr. Pineda will discuss patterns of mosaicism discovered through clinical deep sequencing of disease-related genes in one million individuals.
Developmental Genomics of Congenital Limb Malformations
Ruizhi "Vince" Duan, MS, will discuss using family-based genomics and rare variant analyses to explore the developmental genomics of congenital limb malformations. Their investigation highlighted that allelic series and dosage effects contribute to the observed clinical variability.
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding
Olivia Lee, BS, and Mitchell Machiela, ScD, MPH, will discuss their long-read sequencing investigation of the 6p25.1 Ewing sarcoma susceptibility locus. Their investigation identified that longer variants in a GGAA microsatellite are associated with increased Ewing sarcoma risk by promoting EWSR1-FLI1 binding and altering transcription of nearby RREB1.
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations
Dr. Kerstin U. Ludwig will present on their identification of risk variants for non-syndromic cleft lip with/without cleft palate, using whole-genome sequence data. She will specifically discuss different strategies that were applied to analyze those de novo sequence variation located within the non-coding parts of the genome.