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Full-Text Articles in Life Sciences

Supporting Biomedical Research In The Era Of Omics And Precision Medicine, Rolando Garcia-Milian, Denise Hersey, Nathan Rupp Aug 2016

Supporting Biomedical Research In The Era Of Omics And Precision Medicine, Rolando Garcia-Milian, Denise Hersey, Nathan Rupp

Rolando Garcia-Milian


This annual report (2015-2016) provides a continuing view on the position of the Cushing/Whitney Medical Library End-user Bioinformatics Program. Besides the report on the three main areas of training, resources and tools, and consultations, it contains the results of the recent assessment “Information and Needs Assessment for Biomedical Research in the Omics Era” During this period, 741 Yale affiliates attended (out of 1240 registered) the end-user bioinformatics training and presentations organized by the Medical Library.  This year, the number of Ingenuity Pathway Analysis and MetaCore accounts continued to grow. Consequently, the number and length of research support consultations (130 researchers …


Design, Implementation And Evaluation Of A Medical Library Program To Support Biomedical Research In The Omics Era, Rolando Garcia-Milian, John Gallagher, Janis Glover May 2016

Design, Implementation And Evaluation Of A Medical Library Program To Support Biomedical Research In The Omics Era, Rolando Garcia-Milian, John Gallagher, Janis Glover

Rolando Garcia-Milian


Objectives
Design and implement a sustainable program that supports biomedical research at Yale University. Our program responds to the challenges posed by omics (e.g. genomics, transcriptomics, proteomics, etc.) technologies, identifies the role and place of the Yale Cushing/Whitney Medical Library in the high-throughput omics research cycle, and is based on the organizational culture of the institution.

Methods
Key challenges posed by omics technologies on preclinical and clinical research are: rapidly generating high amount of diverse omics data; integrating these diverse data; exponential increase in the biomedical literature and databases; use of pathway and network-based methods to analyze and visualize information; …


Making Sense Of Genomic Variation: Part 1 Snp Annotation, Rolando Garcia-Milian Mar 2016

Making Sense Of Genomic Variation: Part 1 Snp Annotation, Rolando Garcia-Milian

Rolando Garcia-Milian

The  specific combination of genetic variation in an individual defines not  only the external appearance but also susceptibility to diseases,  cancer, genetic disorders, drug response, etc. This explains the great  interest in discovering and cataloging these variations and using them  for disease association and functional studies, among others. In this  session we will review the most popular databases and tools to annotate,  analyze and visualize genetic variations. Some of the databases and  tools that will be discussed are:
-dbSNP
- Online Mendelian Inheritance in Man a comprehensive, authoritative compendium of human genes and genetic phenotypes.
- GWAS Catalog
-  EBI's …