Blogs

DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER)

6 January 2016 - 1:41pm by Rolando Garcia-Milian

Many genetic variants are novel or rare which makes difficult their clinical interpretation. The DECIPHER Consortium was initiated in 2004 as a community of academic centers of Clinical Genetics who submit consented, anonymized  genotype  and  phenotype  data  from  patients  with  rare  genomic  disorders for sharing with other clinicians and researchers. The identification of patients sharing variants in a given locus with common phenotypic features leads to greater certainty in the clinical interpretation of these variants. As of January 6, 2015, there are 18 539 publicly available patient record, 51 496 phenotype observation in these patients, and 27 175 publicly available copy-number variants in this database.

DECIPHER can be search by phenotype, by genomic position, band, gene, pathogenicity, variant consequence, etc. Results are presented as a table or can be visualized in a browser. This browser contains different tracks where variants can be visualized in the context of other data.

Learn more on DECIPHER and how to use it to make sense of genetic variants at the workshop “Making Sense of Variation”. Please register here if you would like to attend.

You can also contact Rolando Garcia-Milian with questions on this or any other variation tool,

References

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Firth, H.V. et al (2009). Am.J.Hum.Genet 84, 524-533 (DOI: dx.doi.org/10/1016/j.ajhg.2009.03.010)

Exhibit: "Deaf: Cultures and Communication, 1600 to the Present"

6 January 2016 - 12:20pm by Andy Hickner

Deafness exhibit

What is deafness? From a medical perspective, deafness is an audiological condition that might be resolved through hearing aids or cochlear implants. But from another perspective, to be Deaf (often spelled with a capital “D”) is to belong to a culture, with a shared language and identity. This exhibit explores how people have understood deaf communication and Deaf culture since the seventeenth century, with displays on the history of education, medical interventions, sign languages, and popular culture.

This exhibit runs Thursday, January 21, 2016 - Friday, April 1, 2016.

Additional events include:

For a list of upcoming events, please visit the exhibit page at http://library.medicine.yale.edu/historical/deaf.

Qualtrics, an online survey tool

21 December 2015 - 5:48pm by Andy Hickner

(by Denise Hersey)

If you need to create a survey as part of your research, you now have access to Qualtrics, an online survey tool which is HIPPA-compliant.  Qualtrics allows you to create surveys with a myriad of different question types and report options.  You can also collaborate on surveys with colleagues at Yale and share results and data.  Qualtrics is easy to use, but Yale medical librarians can also provide you with support.  

Qualtrics

YSM theses now available through EliScholar

15 December 2015 - 11:37am by Andy Hickner

(by Nathan Rupp and Melissa Grafe)

Nearly 900 Yale School of Medicine theses are now available through Yale University’s online institutional repository known as EliScholar. These include “current” theses published in the last decade that have come out of embargo as well as several YSM alumni theses published as far back as 1952. These theses document the rich research done by Yale’s medical students, and can provide a starting point for current medical students embarking on their projects.  We’re also pleased to make this part of our collection more openly accessible to researchers in general, as the print theses are stored in locked stacks at the Medical Library.  Current YSM students can browse this collection for examples of what a YSM thesis looks like.

For more information about accessing theses at the Medical Library, please see http://library.medicine.yale.edu/find/thesis.

If you are an alumnus and want your thesis digitized, complete this form and email it to Nathan Rupp at nathan.rupp@yale.edu

Yale Physician Associate Program recognizes 3 librarians

10 December 2015 - 12:35pm by Andy Hickner

Jan, Judy & Lei with PA award

From left: Lei Wang, Judy Spak, Jan Glover

On December 7, the Yale Physician Associate Program recognized librarians Jan Glover, Judy Spak, and Lei Wang "for their support & dedication to the thesis & student research."  Each year, these librarians work intensively with students in helping define their thesis statement, and then guiding and assisting them as they conduct the necessary research and literature review. Congratulations, Jan, Judy, and Lei!

Holiday hours for 2015

10 December 2015 - 11:11am by Andy Hickner

As always at this time of year, there will be some changes to the library's usual schedule in the coming weeks.  Here is a summary of library hours from December 23 - January 2: 

  • December 23, 2015:  7:30 am to 5:00 pm
  • December 24 & 25: CLOSED
  • December 25: CLOSED
  • December 26 -30:  11:00 am to 4:00 pm
  • December 31 - January 1: CLOSED 
  • January 2:  back to regular hours

Plan accordingly!

Humanities in Medicine Collection

2 December 2015 - 7:30pm by Alyssa Grimshaw

The Yale Medical Library and Yale Program for Humanities in Medicine partnered on behalf of the Yale Medical Library’s newest collection: Humanities in Medicine. This collection focuses on works of fiction, nonfiction, and poetry that relate to the human condition and human experience.                

Do No Harm by Henry Marsh

This month, we feature a newly published memoir by neurosurgeon Henry Marsh: Do No Harm. Marsh’s writings give insight into the complex and oft compelling inner thoughts that reflect the life and death decisions made by one neurosurgeon looking back over his long career.

The Humanities in Medicine Collection can be found in the shelving units directly across from the Circulation Desk.         

Come join us and browse through these great new books!

 

 

 

 

 

 

 

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