[HTML][HTML] ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
In clinical exome and genome sequencing, there is a potential for the recognition and
reporting of incidental or secondary findings unrelated to the indication for ordering the …
reporting of incidental or secondary findings unrelated to the indication for ordering the …
Identification of neutral tumor evolution across cancer types
Despite extraordinary efforts to profile cancer genomes, interpreting the vast amount of
genomic data in the light of cancer evolution remains challenging. Here we demonstrate that …
genomic data in the light of cancer evolution remains challenging. Here we demonstrate that …
Quantification of subclonal selection in cancer from bulk sequencing data
Subclonal architectures are prevalent across cancer types. However, the temporal evolutionary
dynamics that produce tumor subclones remain unknown. Here we measure clone …
dynamics that produce tumor subclones remain unknown. Here we measure clone …
[HTML][HTML] Implementing genomic medicine in the clinic: the future is here
…, B Ozenberger, DM Roden, MS Williams… - Genetics in …, 2013 - nature.com
Although the potential for genomics to contribute to clinical care has long been anticipated,
the pace of defining the risks and benefits of incorporating genomic findings into medical …
the pace of defining the risks and benefits of incorporating genomic findings into medical …
[HTML][HTML] The electronic medical records and genomics (eMERGE) network: past, present, and future
The Electronic Medical Records and Genomics Network is a National Human Genome
Research Institute–funded consortium engaged in the development of methods and best …
Research Institute–funded consortium engaged in the development of methods and best …
CHARGE association: an update and review for the primary pediatrician
…, MA Hefner, RA Pagon, MS Williams… - Clinical …, 1998 - journals.sagepub.com
CHARGE association is a nonrandom pattern of congenital anomalies that occurs together
more frequently than one would expect on the basis of chance. This common multiple …
more frequently than one would expect on the basis of chance. This common multiple …
[HTML][HTML] Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)
Introduction Reporting and sharing pharmacogenetic test results across clinical laboratories
and electronic health records is a crucial step toward the implementation of clinical …
and electronic health records is a crucial step toward the implementation of clinical …
[PDF][PDF] Return of genomic results to research participants: the floor, the ceiling, and the choices in between
As more research studies incorporate next-generation sequencing (including whole-genome
or whole-exome sequencing), investigators and institutional review boards face difficult …
or whole-exome sequencing), investigators and institutional review boards face difficult …
[HTML][HTML] Climate anxiety: What predicts it and how is it related to climate action?
…, M Williams, E Marks, P Kennedy-Williams - Journal of …, 2022 - Elsevier
As scientific evidence of the severity of climate change increases, there are indications that
this represents a significant psychological burden in the form of climate anxiety on the public. …
this represents a significant psychological burden in the form of climate anxiety on the public. …
[HTML][HTML] Ovarian cancer mutational processes drive site-specific immune evasion
High-grade serous ovarian cancer (HGSOC) is an archetypal cancer of genomic instability 1
, 2 , 3 – 4 patterned by distinct mutational processes 5 , 6 , tumour heterogeneity 7 , 8 – 9 …
, 2 , 3 – 4 patterned by distinct mutational processes 5 , 6 , tumour heterogeneity 7 , 8 – 9 …