Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants> 5 kb from coding DNA
S Xiao, Z Kai, D Murphy, D Li, D Patel… - The American Journal of …, 2023 - cell.com
Despite whole-genome sequencing (WGS), many cases of single-gene disorders remain
unsolved, impeding diagnosis and preventative care for people whose disease-causing …
unsolved, impeding diagnosis and preventative care for people whose disease-causing …
“I have fought for so many things”: disadvantaged families' efforts to obtain community-based services for their child after genomic sequencing
Background Families whose child has unexplained intellectual or developmental differences
often hope that a genetic diagnosis will lower barriers to community-based therapeutic and …
often hope that a genetic diagnosis will lower barriers to community-based therapeutic and …
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
V Cipriani, L Vestito, EF Magavern, JOB Jacobsen… - medRxiv, 2023 - medrxiv.org
To discover rare disease-gene associations, we developed a gene burden analytical
framework and applied it to rare, protein-coding variants from whole genome sequencing of …
framework and applied it to rare, protein-coding variants from whole genome sequencing of …
Functional filter for whole genome sequence data identifies stress impact, non-coding alternate polyadenylation site variants> 5kb from coding DNA
S Xiao, Z Kai, D Murphy, D Li, D Patel, A Bielowka… - medRxiv, 2023 - medrxiv.org
Despite whole genome sequencing (WGS), why do many single gene disorder cases
remain unsolved, impeding diagnosis and preventative care for people whose disease …
remain unsolved, impeding diagnosis and preventative care for people whose disease …
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
Objective To explore the perspectives of parents of undiagnosed children enrolled in
genomic diagnosis research regarding their motivations for enrolling their children, their …
genomic diagnosis research regarding their motivations for enrolling their children, their …
Blurred Boundaries: Toward an Expanded Ethics of Research and Clinical Care
MC Halley, NW Olson - The American Journal of Bioethics, 2023 - Taylor & Francis
In this issue, Morain and Largent (2023) raise a pressing issue arising in the context of
embedded research—the nature and extent of investigator duties to patient-participants …
embedded research—the nature and extent of investigator duties to patient-participants …