31 research outputs found
Land Preservation: An Essential Ingredient in Smart Growth
The preservation of land for working rural landscapes, wildlife habitat, urban parks, recreational trails, and protecting water supplies and floodplains is emerging as an integral component of smart growth programs. Both the general public and nonprofit organizations have been willing to spend billions of dollars on land preservation because of a perception that traditional land use planning and regulation are not successfully accommodating growth or protecting valuable natural resources. The literature on smart growth has largely overlooked the potential of land preservation to curb sprawl and to foster livable communities. The literature on land preservation has focused on the mechanics of conservation easements and land purchases rather than on how land preservation can fit in the comprehensive planning process to achieve community smart growth goals. More research needs to be done on the strategic use of land preservation in shaping and directing growth as part of a comprehensive planning effort
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
PURPOSE: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.
METHODS: The SD-GCEP applied ClinGen\u27s framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.
RESULTS: From April 2020 through March 2024, 38 precurations were performed on genes with multiple disease relationships and were reviewed to determine if the disorders were part of a spectrum or distinct entities. 14 genes were lumped into a single disease entity and 24 were split into separate entities, of which 11 were curated by the SD-GCEP. A full review of 111 GDRs for 100 genes followed, with 78 classified as Definitive, 9 as Strong, 15 as Moderate, and 9 as Limited highlighting where further data are needed. All diseases involved two or more organ systems, while the majority (88/111 GDRs, 79.2%) had five or more organ systems affected.
CONCLUSION: The SD-GCEP addresses a critical gap in gene curation efforts, enabling inclusion of genes for syndromic disorders in clinical testing and contributing to keeping pace with the rapid discovery of new genetic syndromes
Global activist and elder statesmen of the Sierra Club : Alaska, international conservation, national parks, and protected areas, 1980-1992 /
EVALUATION OF CORRELATIONAL INFORMATION IN DIGITIZED CELL IMAGES
The processing of digitized cell images by computer may yield information not only about a set of cell image properties but also about their mutual dependencies. Observation of the covariance matrix of image properties of cellular material showing a response to chemotherapeutic treatment, ionizing radiation or antigenic challenge or following a developmental trend may permit a quantitative description of small trendal charges The covariance between certain cell image properties may show statistically significant changes before the mean values of the image properties are affected. Methods of reducing the dimensionality of the representation in an efficient manner are described. </jats:p
Global activist and elder statesmen of the Sierra Club : Alaska, international conservation, national parks, and protected areas, 1980-1992 /
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Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
Background
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity.
Objectives
The authors report work by the Clinical Genome Resource Hereditary Cardiovascular Disease (HCVD) Gene Curation Expert Panel (GCEP) to reappraise the clinical validity of previously curated and new putative HCM genes.
Methods
The Clinical Genome Resource systematic gene curation framework was used to reclassify the gene-disease relationships for HCM and related syndromic entities involving left ventricular hypertrophy. Genes previously curated were included if their classification was not definitive, and if the time since curation was >2 to 3 years. New genes with literature assertions for HCM were included for initial evaluation. Existing genes were curated for new inheritance patterns where evidence existed. Curations were presented on twice monthly calls, with the HCVD GCEP composed of 29 individuals from 21 institutions across 6 countries.
Results
Thirty-one genes were recurated and an additional 5 new potential HCM-associated genes were curated. Among the recurated genes, 17 (55%) genes changed classification: 1 limited and 4 disputed (from no known disease relationship), 9 disputed (from limited), and 3 definitive (from moderate). Among these, 3 (10%) genes had a clinically relevant upgrade, including TNNC1, a 9th sarcomere gene with definitive HCM association. With new evidence, 2 genes were curated for multiple inheritance patterns (TRIM63, disputed for autosomal dominant but moderate for autosomal recessive; ALPK3, strong for autosomal dominant and definitive for recessive). CSRP3 was curated for a semidominant mode of inheritance (definitive). Nine (29%) genes were downgraded to disputed, further discouraging clinical reporting of variants in these genes. Five genes recently reported to cause HCM were curated: RPS6KB1 and RBM20 (limited), KLHL24 and MT-TI (moderate), and FHOD3 (definitive).
Conclusions
We report 29 genes with definitive, strong, or moderate evidence of causation for HCM or isolated left ventricular hypertrophy, including sarcomere, sarcomere-associated, and syndromic conditions
