The Gene Ontology resource: enriching a GOld mine

The Gene Ontology Consortium (GOC) provides the most comprehensive resource currently available for computable knowledge regarding the functions of genes and gene products. Here, we report the advances of the consortium over the past two years. The new GO-CAM annotation framework was notably improved, and we formalized the model with a computational schema to check and validate the rapidly increasing repository of 2838 GO-CAMs. In addition, we describe the impacts of several collaborations to refine GO and report a 10% increase in the number of GO annotations, a 25% increase in annotated gene products, and over 9,400 new scientific articles annotated. As the project matures, we continue our efforts to review older annotations in light of newer findings, and, to maintain consistency with other ontologies. As a result, 20 000 annotations derived from experimental data were reviewed, corresponding to 2.5% of experimental GO annotations. The website (http://geneontology.org) was redesigned for quick access to documentation, downloads and tools. To maintain an accurate resource and support traceability and reproducibility, we have made available a historical archive covering the past 15 years of GO data with a consistent format and file structure for both the ontology and annotations

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Not AvailableA field experiment was conducted during 2010-12 in banana cv. Robusta (AAA) to study the effects of combined application of fertigation and consortium of biofertilizers on some of the biological properties of the soil. The results indicated that the application of fertigation with consortium of biofertilizers significantly enhanced the soil respiration (19 to 83 per cent), dehydrogenese activity (52 to 97 per cent), Glomalin content (21 to 72 per cent) and phosphatase activities (Acid phosphatase from 53 to 92 per cent and alkaline phosphatase from 40 to 82 per cent) as compared to only fertigation treatment. In both main and ratoon crops, the fertigation treatment without consortium of biofertilizers recorded the lowest values for these soil biological properties. This study indicated that the soil biological properties can be significantly enhanced by combining fertigation with consortium of biofertilizers which also substantially reduces the requirement of chemical fertilizers up to 25-50 per cent.Not Availabl

Legislation and policy options for conservation and management of seagrass ecosystems in India

Not AvailableSeagrassmeadowsarerecognizedasoneofthemostproductiveecosystemsinthecoastalzonesupportingawide variety of keystone and ecologically important marine species from diverse trophic levels. This paper examines existing policiesand legislations thatcanhelpinthe protection, conservation andthreats toseagrass ecosystems. The paper (i) reviews the key legislations with provisions to conserve seagrass ecosystems in India such as the Coastal Regulation Zone (CRZ) Notification (2011) issued under the Environment (Protection), Act 1986, the Wildlife (Protection) Act, (1972), Biodiversity Act, 2002 and the Marine Fishing Regulation Acts of different coastal states in India; (ii) identifies threats to the seagrass meadows and (iii) suggests measures for enhancing conservation of seagrass.Not Availabl

Evaluation of lingual fracture pattern of the mandible after bilateral sagittal split osteotomy with and without inferior border osteotomy

The Purpose of the study was to evaluate the pattern of lingual split when performing a bilateral sagittal split osteotomy (BSSO) with different osteotomy methods. A total of 15 dry human cadaveric mandibles was taken for the study. The classical Epker technique of BSSO was performed on the left side. The same was done on the right side along with an-additional inferior border osteotomy. There resultant split was assessed based on modified lingual split scale. The maximum torque force that was needed to split the mandible was recorded and the fracture pattern was observed. Similar osteotomies were performed in 15 fresh goat mandibles which acted as control group. The human cadaveric dry mandible recorded an average torque of 12.6 +2.4 Nm (SD: 0.32) with a maximum of 16.0 Nm and a minimum of 8.0 Nm on left side.80% of the mandible were Type I fracture pattern and 20% had Type III fracture pattern. In contrast with the modified BSSO technique with an additional inferior border osteotomy required a maximal torque of 12.0 N and a minimal torque of 5.0 with an average required torque of 8.7 + 2.1 N on the right side of the mandible

The effects of pathogenic variants for inherited hemostasis disorders in 140,214 UK Biobank participants

This is the author accepted manuscript. The final version is available on open access from the American Society of Hematology via the DOI in this recordData sharing statement: Genotype and phenotype data are accessible at UK Biobank (https://www.ukbiobank.ac.uk/) and require an active project and application. The Data analysis scripts will be shared by contacting the corresponding author.Rare genetic diseases affect millions, and identifying causal DNA variants is essential for patient care. Therefore, it is imperative to estimate the effect of each independent variant and improve their pathogenicity classification. Our study of 140,214 unrelated UK Biobank (UKB) participants found each carries a median of 7 variants previously reported as pathogenic or likely pathogenic. We focused on 967 diagnostic-grade genes (DGGs) variants for rare bleeding, thrombotic, and platelet disorders (BTPDs) observed in 12,367 UKB participants. By association analysis, for a subset of these variants, we estimated effect sizes for platelet count and volume, and odds ratios for bleeding and thrombosis. Variants causal of some autosomal recessive platelet disorders revealed phenotypic consequences in carriers. Loss-of-function variants in MPL, which cause chronic amegakaryocytic thrombocytopenia if biallelic, were unexpectedly associated with increased platelet counts in carriers. We also demonstrated that common variants identified by genome-wide association studies (GWAS) for platelet count or thrombosis risk may influence the penetrance of rare variants in BTPD DGGs on their associated hemostasis disorders. Network-propagation analysis applied to an interactome of 18,410 nodes and 571,917 edges showed that GWAS variants with large effect sizes are enriched in DGGs and their first-order interactors. Finally, we illustrate the modifying effect of polygenic scores for platelet count and thrombosis risk on disease severity in participants carrying rare variants in TUBB1, or PROC and PROS1, respectively. Our findings demonstrate the power of association analyses using large population datasets in improving pathogenicity classifications of rare variants