Resources

• Access to Care
• Country of Origin
• FACToR - Feelings about Genomic Testing Results
• Follow Through on Medical Actions Attributable to Genomic Testing
• Health Literacy
• Income - Adult
• Income - Parental
• Information Seeking
• Insurance Status - Adult
• Insurance Status - Parental
• Language
• Participant Understanding
• Patient Initiated Actions Attributable to Genomic Testing
• PedsQL Measure
• PRU - Patient Reported Utility
• Quality of Life - Visual Analog Scale
• Quality of Life SF12
• Race and Ethnicity
• Sex and Gender
• SF-12 Post Disclosure
• Subjective Numeracy Scale

A slide deck of the basic information about CSER, ranging from the purpose & specific aims to a site map to the leadership of various aspects of the program:

• Overview Slides
• Overview PDF

A useful diagram of all different components of the CSER Program and their relationships to one another:

• Organizational Chart PDF

A just-in-time resource toolkit to aid physicians in interpreting genomic reports. Created by the CSER Practitioner Education working group:

The official CSER1 variant database. Created by NextMed:

A database of genes that, when somatically altered in cancer, are directly linked to a clinical action. Created by CanSeq:

https://www.broadinstitute.org/cancer/cga/target

A heuristic algorithm for clinical interpretation of cancer genome sequencing data. Created by CanSeq:

https://www.broadinstitute.org/cancer/cga/phial

Cassandra combines annovar output with other public datasources to output annotated .vcf files. Created by BASIC3:

Atlas 2 is a next-generation sequencing suite of variant analysis tools specializing in the separation of true SNPs and insertions and deletions (indels) from sequencing and mapping errors in Whole Exome Capture Sequencing (WECS) data. Created by BASIC3:

Proband is an app for taking family history pedigrees, designed exclusively for the iPad. Created by PediSeq.

Preferences Instrument for Genomic Secondary Results (PIGSR) is tool to allow adults undergoing genomic testing to record their preferences about getting incidental or secondary results.

A NEJM interactive graphic on clinical genome and exome sequencing. Created by ClinSeq and MedSeq:

https://www.nejm.org

An online "Mini-Fellowship" developed to help a general clinician learn about Clinical Genetics:

https://www.genetics-cme.com/tour

Online courses about using family history in the clinic:

Online CME courses in a wide range of different topics related to health care:

https://hms.harvard.edu/education/continuing-education/online-cme-courses

Medscape offers diverse topics in its online CME library:

A freely accessible, public archive of reports of the relationships among human variations and phenotypes with supporting evidence:

The Exome Variant Server (EVS), a data browser for data from the Exome Sequencing Project (ESP):

dbGaP (Database of Genotypes and Phenotypes), a database developed to archive and distribute the results of studies that have investigated the interaction of genotype and phenotype:

The UCSC Genome Browser, containing the reference sequence and working draft assemblies for a large collection of genomes:

OMIM (Online Mendelian Inheritance in Man), a comprehensive, authoritative compendium of human genes and genetic phenotypes:

GeneReviews, expert-authored, peer-reviewed genetic disease descriptions with a clinical focus:

Genetics Home Reference, consumer-friendly information about the effects of genetic variations on human health:

Center for Mendelian Genomics, will apply next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions.

The CSER1 ELSI literature archive, an ongoing collection of articles and other literature relevant to the ethical, legal, and social implications of genomic sequencing: