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  • Addressing Human Diversity in the Context of Polygenic Inheritance

    Contains 1 Component(s) Includes a Live Web Event on 11/10/2021 at 12:00 PM (EST)

    Investigating polygenic inheritance of traits and diseases in human genomic diversity.

    In this webinar, the speakers will provide an overview of ongoing efforts focused on investigating the polygenic inheritance of human traits and diseases in the context of human genomic diversity. The session will conclude with a dedicated panel discussion, with input from attendees, to initiate a broader conversation about what our research community needs to do to speed up the eradication of the diversity gap in human genetics.

    Learning Objectives:

    • Understand that racial and ethnic categories do not properly represent human diversity in the context of the genetic liability to human traits and diseases
    • Demonstrate how gene discovery and polygenic risk scoring analyses need statistical models that adequately account for the complex patterns observed within ancestry groups and among recently-admixed populations
    • Present the current findings obtained and the methods applied by research groups leading multi-ancestry investigations focused on different domains of human genetic research
    • Outline the translational importance of addressing the diversity gap in human genetic research to ensure future healthcare equality across all individuals independently of their ancestral background

    Frank Wendt, PhD

    NIMH Postdoctoral Fellow

    Yale University School of Medicine

    Dr. Wendt (he/him) is a Postdoctoral Fellow at Yale School of Medicine and a genetic epidemiology affiliate of the US Department of Veterans Affairs Connecticut Healthcare System. Frank received his Bachelor's degree from the Forensic Science Program at The Pennsylvania State University and completed his doctoral work under the mentorship of Dr. Bruce Budowle in the Center for Human Identification at the University of North Texas Health Science Center. Dr. Wendt is actively involved in studies of forensically relevant population genetics, microbial forensics, DNA phenotyping, and human trafficking. His genetic epidemiology research at Yale employs genome-wide association studies (GWAS) and computational methods to understand cause versus consequence of pleiotropic loci associated mental health, behavior, and cognition. Frank is broadly interested in the genetic and environmental risk factors shared by internalizing psychopathologies, including posttraumatic stress disorder, major depression, anxiety, and neuroticism.

    Alicia Martin, PhD

    Assistant Investigator

    Massachusetts General Hospital

    Alicia R. Martin, Ph.D., is an Assistant Investigator at the Analytic & Translational Genetics Unit at Massachusetts General Hospital, an Instructor in Medicine at Harvard Medical School, and an Associated Scientist at the Broad Institute affiliated with the Stanley Center for Psychiatric Research and the Medical and Population Genetics Program. As a population and statistical geneticist, her research examines the role of human history in shaping global genetic and phenotypic diversity. Given vast Eurocentric study biases, she investigates the generalizability of knowledge gained from large-scale genetic studies across globally diverse populations. She is particularly focused on ensuring that the translation of genetic technologies via polygenic risk does not exacerbate health disparities induced by these study biases. Towards this end, she is also developing statistical methods and resources for multi-ethnic studies and underrepresented populations.    

    Elizabeth Atkinson, PhD

    Assistant Professor

    Baylor College of Medicine

    Dr. Elizabeth Atkinson (Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine) is a population and statistical geneticist working towards increased inclusion of diverse ancestry participants in genomics. She received her PhD from Washington University in St. Louis and conducted an NIH IRACDA fellowship at Stony Brook University followed by NIMH K01-funded postdoctoral training at Massachusetts General Hospital and the Broad Institute. Her work is centered around neuropsychiatric traits with particular focus on admixed American populations and groups of African descent, though many of her tools are broadly applicable across phenotypes and populations. She recently developed the Tractor method to allow for the inclusion of admixed individuals in GWAS. She also works on better understanding the demographic and evolutionary history of diverse human groups, including overturning the textbook story regarding the evolution of the FOXP2 language gene. 

    Sarah Tishkoff, PhD (Moderator)

    Professional Practice & Social Implications Co-chair, Professor in Genetics and Biology

    University of Pennsylvania

    Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Department of Genetics. 

    Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, and immune related traits, and how humans have adapted to diverse environments and diets. 

    Dr. Tishkoff is a member of the National Academy of Sciences and the American Academy of Arts and Sciences and is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern award, and a Penn Integrates Knowledge (PIK) endowed chair. She is on the NAS Board of Global Health and the scientific advisory board for the Packard Fellowships in Science and Engineering, and is on the editorial boards at Cell, PLOS Genetics, Genome Research and G3 (Genes, Genomes, and Genetics).

    Her research is supported by grants from the National Institutes of Health, the Chan Zuckerberg Institute, and the American Diabetes Association.

    Renato Polimanti, PhD (Moderator)

    Assistant Professor of Psychiatry

    Yale University School of Medicine

    Dr. Polimanti is Assistant Professor of Psychiatry at Yale University School of Medicine. He received his PhD in evolutionary biology with a focus on human genetics at the University of Rome “Tor Vergata” in October 2013. Subsequently, Dr. Polimanti completed his postdoctoral training in psychiatric genetics at Yale. In July 2017, he began his independent career in the Division of Human Genetics of the Yale Department of Psychiatry. His research group is currently supported by grants from the National Institute on Drug Abuse, the National Institute on Deafness and Other Communication Disorders, the National Institute on Mental Health, the Department of the Veterans Affairs, the Marie Skłodowska-Curie Actions, and One Mind. Dr. Polimanti’s main focus is to develop analytic approaches to investigate the polygenicity and pleiotropy of human traits and diseases in diverse populations using large-scale genome-wide datasets and multi-omics information. 

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      • Undergraduate Student Member - Free!
      • Emeritus Member - Free!
      • Life Member - Free!
      • Trainee Member - Free!
      • Nonmember - Free!
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  • ASHG 2021 Awards

    Contains 1 Component(s) Recorded On: 10/18/2021

    Watch the 2021 ASHG Award Presentation Videos

    Watch Videos Here


    Since 1962, ASHG has honored outstanding achievements in the field through its annual awards. Each spring, ASHG members are invited to nominate their colleagues for these prestigious awards. These awards recognize individuals with a diverse background of experience, ideas, and perspectives for a variety of activities, including carrying out substantial research and far-reaching scientific contributions to the field, expanding human genetics education, promoting the science of human genetics and its application for the common good, and mentoring the next generation of human genetics and genomics professionals. ASHG is committed to improving diversity and inclusion in all its forms, and encourages nominations of outstanding scientists who represent that breadth of background and experience.

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      • Postdoctoral Fellow Member - Free!
      • Graduate Student Member - Free!
      • Undergraduate Student Member - Free!
      • Emeritus Member - Free!
      • Life Member - Free!
      • Trainee Member - Free!
      • Nonmember - Free!
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  • Gruber Prize Presentation and Lecture

    Contains 1 Component(s) Recorded On: 10/07/2021

    Gruber Prize Presentation and Lecture: Turning on Fetal Hemoglobin for Therapy of Hemoglobin Disorders: A Journey Through Contemporary Genetics

    The 2021 Gruber Genetics Prize recognizes hematologist-oncologist and geneticist Stuart H. Orkin, MD, for his pioneering discoveries of the genetic underpinnings of blood disorders. His remarkable body of work has not only revolutionized our understanding of how these illnesses occur but has also led to promising new gene-based therapies for thalassemia and sickle cell disease, two inherited blood disorders that affect millions of people around the world.

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      • Undergraduate Student Member - Free!
      • Emeritus Member - Free!
      • Life Member - Free!
      • Trainee Member - Free!
      • Nonmember - Free!
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  • Open Targets Genetics: An open access resource to systematically prioritize genes at all human GWAS trait-associated loci

    Contains 1 Component(s)

    In this workshop, we will present Open Targets Genetics, an open access resource which makes robust connections between GWAS-associated loci and likely causal genes, to enable the identification of new drug targets.

    Genome-wide association studies (GWAS) have identified a large number of variants robustly associated with complex traits and diseases. However, pinpointing the gene(s) mediating such associations remains a major challenge as the majority of variants are found in the non-coding regions of the genome. Identifying the right target is key in drug discovery as drugs supported by GWAS evidence are twice as likely to be approved for clinical use.

    In this workshop, we will present Open Targets Genetics 1,2, an open access resource which makes robust connections between GWAS-associated loci and likely causal genes, to enable the identification of new drug targets. 

    The portal uses a wide range of resources including FinnGen, GWAS Catalog both curated from literature and full summary statistics (including over 3,000 UK Biobank phenotypes) to locate over 100,000 trait-associated loci. Since our first release in 2018, we have applied systematic fine-mapping across 133,441 published GWAS loci to identify a set of potentially causal variants at each locus. We also provide systematic disease-disease and disease-molecular trait colocalization results across 92 cell types and tissues. More recently, we have implemented a machine learning approach, Locus2Gene2, to systematically prioritize causal genes at all trait-associated loci. 

    Our analyses are made available through our web portal, for bulk download, and via a GraphQL API, making it one of the most comprehensive tools for users to prioritize genes at associated loci and assess their potential as drug targets.  

    Participants will learn to use Open Targets Genetics to establish, visualize and interpret links between genes, variants, and diseases, find shared susceptibility loci between traits, investigate molecular trait-disease colocalization and prioritize drug targets.  

    We will start the session with a short presentation about the portal, followed by a live demo of its features and how to access the data. Participants are encouraged to work through an exercise prior to coming to the workshop to familiarize themselves with Open Targets Genetics and the process leading to gene prioritization.



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      • Regular Member - $10
      • Early Career Member - $5
      • Resident/Clinical Fellow Member - $5
      • Postdoctoral Fellow Member - $5
      • Graduate Student Member - $5
      • Undergraduate Student Member - $5
      • Emeritus Member - $5
      • Life Member - $10
      • Trainee Member - $5
      • Nonmember - $25
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  • An overview of public resources for gene-disease association and sequence and copy number variant interpretation

    Contains 9 Component(s)

    In this workshop, participants will learn about (and have hands-on experience with) new or newly updated resources that can aid in the interpretation of genomic data.

    In this workshop, participants will learn about (and have hands-on experience with) new or newly updated resources that can aid in the interpretation of genomic data, including:

    1. the Gene Curation Coalition (GenCC) Database;
    2. gnomAD: The Genome Aggregation Database;
    3. ClinGen’s Dosage Sensitivity Map; and
    4. ClinGen’s Community Curation Curation Baseline Annotation.

    Launched in December 2020, the GenCC DB is a gene-level knowledgebase for claims on the strength of gene disease relationships made by submitters, much like a “ClinVar for genes.” The GenCC comprises organizations that currently provide online resources (e.g. ClinGen, DECIPHER, GEL PanelApp, OMIM, Orphanet, PanelApp Australia, TGMI’s G2P), as well as diagnostic labs that have committed to sharing their internal curated gene-level knowledge (e.g. Ambry, Illumina, Invitae, Myriad Women’s Health, MGB Laboratory for Molecular Medicine).  With data from over 200,000 individuals, gnomAD contains annotations that aid in variant interpretation, including allele frequency, gene expression data, automated and manually curated loss-of-function annotations, constraint scores, heteroplasmy estimates for mitochondrial variation, and structural annotations.

    The ClinGen Dosage Sensitivity Map provides evidence-based assessments of haploinsufficiency and triplosensitivity for genes and genomic regions critical for interpreting copy number variants. Users can search by gene or by genomic coordinates, and the data is downloadable for easy incorporation into genomic pipelines. ClinGen’s Baseline Annotation effort improves data transparency through the use of a web-based annotation tool, Hypothes.is, and has the potential to expedite the evaluation of variant pathogenicity, gene-disease validity and more.

    The workshop will include an overview of each resource and then lead participants through interactive demonstrations that will teach participants how to use each resource in the context of genomic analysis and interpretation (e.g. for interpreting gene-disease relationships and variant pathogenicity).


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      • Regular Member - $10
      • Early Career Member - $5
      • Resident/Clinical Fellow Member - $5
      • Postdoctoral Fellow Member - $5
      • Graduate Student Member - $5
      • Undergraduate Student Member - $5
      • Emeritus Member - $5
      • Life Member - $10
      • Trainee Member - $5
      • Nonmember - $25
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  • An Educator's Resource on Discussing Cultural Awareness and Competency around Human Genetics

    Contains 1 Component(s) Recorded On: 09/23/2021

    A resource for educators in teaching topics centered around human genetics and genomics.

    Educators have the unique and vital role of supporting students' cultural awareness and competency around human genetics and genomics in their classrooms. The American Society of Human Genetics' Public Education and Awareness Committee and Diversity, Equity, and Inclusion Task Force have organized this webinar with the goal of supplementing classroom discussion about this topic and serving as a resource on a timely topic that also has a long shelf life and can be utilized in years to come. Educators and those interested in exploring the issue will be able to use this content as a resource in their further discussions.

    Learning Objectives:

    • Webinar to serve as a resource for educators grappling with issues of cultural awareness and competency in teaching topics centered around human genetics and genomics.
    • Provide a dialogue on a timely topic with a longer shelf life that would ultimately serve as a resource to educators and others interested in exploring these issues. 

    Neil Risch , PhD

    Lamond Family Foundation Distinguished Professor in Human Genetics and Founding Director of the Institute for Human Genetics

    University of California San Francisco

    Neil Risch is the Lamond Family Foundation Distinguished Professor in Human Genetics, Founding Director of the Institute for Human Genetics, and Professor and former chair of the Department of Epidemiology and Biostatistics at the University of California San Francisco.  Dr. Risch received his undergraduate training at the California Institute of Technology in mathematics and received his Ph.D. from the University of California Los Angeles in Biomathematics.  Prior to coming to UCSF in 2005, Dr. Risch held professorships at Columbia, Yale, and Stanford Universities.  Dr. Risch's research interests are in the areas of human genetics, population genetics and evolution, genetic epidemiology and statistical genetics, where he has published extensively. He is the recipient of the Curt Stern Award from the American Society of Human Genetics for his contributions to human genetics.  He is an elected fellow of the American Association for the Advancement of Science, the California Academy of Sciences and the National Academy of Medicine.  He is past president of the American Society of Human Genetics.  He is recognized for his novel statistical approaches to the genetic study of common, complex diseases, in particular the introduction of genome-wide association studies.  

    Digna Velez Edwards, PhD, MS

    Director of the Division of Quantitative Sciences, Department of Obstetrics and Gynecology

    Vanderbilt University Medical Center

    Digna Velez Edwards, PhD, MS, is a genetic epidemiologist, Professor of Obstetrics and Gynecology, Director of the Division of Quantitative Sciences in the Department of Obstetrics and Gynecology, Director of Women's Health Research center, and is Co-Director of the Initiative to Maximizing Student Diversity (IMSD) training program. She has doctoral training in human genetics and has a master's degree in statistics. She started as faculty in the department of Obstetrics and Gynecology in 2010 pursuing research focused on understanding the genetic determinants of health disparities and the role of gene and environment interactions in the risk for complex diseases, with a specific interest in fibroproliferative disorders that include uterine fibroids and keloids and diseases that disproportionately impact women's reproductive health. She is also actively engaged in early career faculty and graduate student training through her role as Associate Program Director of the Vanderbilt’s Building Interdisciplinary Research Careers in Women’s Health K12 Program that focuses on training faculty in sex and gender research careers, as well her role as Co-Director of the IMSD graduate student training program.

    Maurice Godfrey, PhD (Moderator)

    Professor, Molecular Genetics

    University of Nebraska Medical Center

    Maurice Godfrey earned the Ph.D. in Pathobiology and Immunology from Columbia University in New York. Following a fellowship at Shriners Hospital for Children he joined the University of Nebraska Medical Center where he is now Professor in the Munroe-Meyer Institute. Among his honors are: Basil O’Connor Scholar of the March of Dimes; Established Investigator of the American Heart Association; Antoine Marfan Award of the Marfan Foundation; Chief Standing Bear Organizational Award from the Nebraska Commission on Indian Affairs; and the Visionary Leadership in Education Award from the University of Nebraska Medical Center. He is the Chair of the Public Education and Awareness Committee of the American Society of Human Genetics and Associate Editor of the Journal of STEMOutreach. Since 2005 he has led NIH funded programs to bring health and science education to schools and communities on Indian reservations in Nebraska and South Dakota

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      • Undergraduate Student Member - Free!
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      • Life Member - Free!
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      • Nonmember - Free!
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  • Analyzing and visualizing single-cell genomics data from the BRAIN Initiative with the Neuroscience Multi-Omic Archive and NeMO Analytics

    Contains 4 Component(s)

    In this interactive workshop, we will introduce participants to tools for accessing, analyzing, and visualizing BICCN data using the Neuroscience Multi-Omic Archive, which serves as the primary repository for genomics data from the BRAIN Initiative.

    Single-cell genomics is rapidly transforming our understanding of cell types and cell states. The Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative Cell Census Network (BICCN) is an NIH-funded consortium, which aims to map all of the cell types in the mammalian brain. Researchers within BICCN have sequenced the transcriptomes and epigenomes of >10 million cells from the brains of humans, non-human primates, and mice.

    In this interactive workshop, we will introduce participants to tools for accessing, analyzing, and visualizing BICCN data using the Neuroscience Multi-Omic Archive (NeMO Archive) and NeMO Analytics. The NeMO Archive serves as the primary repository for genomics data from the BRAIN Initiative, while NeMO Analytics is a web-based, biologist-friendly visualization and analysis portal for BICCN data.

    Participants will learn how to find BICCN data in the NeMO Archive and perform high-throughput data processing in the BICCN Cloud-Computing Environment (powered by Terra, terra.bio); interact with BICCN data at NeMO Analytics and use the gEAR software underlying NeMO Analytics to create publication-ready visualization portals from their own data.


    Seth Ament, PhD

    Associate Professor

    Department of Psychiatry, Institute for Genome Sciences, and Maryland Psychiatric Research Center at the University of Maryland School of Medicine

    Dr. Ament is an Associate Professor in the Department of Psychiatry, Institute for Genome Sciences, and Maryland Psychiatric Research Center at the University of Maryland School of Medicine. His research aims to characterize the development and diversity of cell types in the human brain and their perturbation in brain disorders using single-cell genomics and related technologies.

    Ronna Hertzano, MD, PhD

    Professor

    Department of Otorhinolaryngology-Head & Neck Surgery at the University of Maryland School of Medicine

    Ronna Hertzano, MD, PhD. Dr. Hertzano is an Associate Professor in the Department of Otorhinolaryngology-Head & Neck Surgery at the University of Maryland School of Medicine. A surgeon-scientist, her clinical practice focuses on the diagnosis and treatment of diseases of the ear, while her research characterizes regulatory signaling cascades in the developing ear. Several years ago, Dr. Hertzano realized that the lack of intuitive tools for the non-informatics trained biologists for visualization and analysis of omics data presents a major barrier to effective dissemination, sharing and analysis of expression data by cellular and molecular biologists. This led to the inception and development of the gEAR (umgear.org), a web platform for the visualization and analysis of transcriptomic and epigenomic data from the inner ear, and subsequently to the development of NeMO Analytics.

    Joshua Orvis

    Bioinformatics Software Engineer

    Institute for Genome Sciences at the University of Maryland School of Medicine

    Mr. Orvis is a Bioinformatics Software Engineer in the Institute for Genome Sciences at the University of Maryland School of Medicine. He is the lead developer of the gEAR software that powers NeMO Analytics.

    Brian Herb, PhD

    Bioinformatics Software Engineer

    Institute for Genome Sciences at the University of Maryland School of Medicine

    Dr. Herb is a Bioinformatics Software Engineer in the Institute for Genome Sciences. He contributes to the development of scalable, data analysis pipelines that are being used in the analysis of massive single-cell genomics datasets from the BRAIN Initiative and other consortia.

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      • Postdoctoral Fellow Member - $5
      • Graduate Student Member - $5
      • Undergraduate Student Member - $5
      • Emeritus Member - $5
      • Life Member - $10
      • Trainee Member - $5
      • Nonmember - $25
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  • Learn the Best Way to Find Data in NIH’s Sequence Read Archive (SRA) On the Cloud

    Contains 1 Component(s)

    This workshop will introduce you to powerful metadata searches for the Sequence Read Archive (SRA) by using interactive metadata queries in the cloud.

    This workshop will introduce you to powerful metadata searches for the Sequence Read Archive (SRA) by using interactive metadata queries in the cloud.

    This service expands the search tools available for SRA and saves time by finding exactly the data you want more quickly than ever before.

    We will discuss metadata searches in AWS and GCP using common database query methods and demonstrate how to use the metadata tables for searching. We'll run through some hands-on exercises:

    1. finding sequence data based on k-mer searches for specific taxonomic IDs and
    2. filtering runs to find exactly what you want.

    We will also provide demonstrations and examples to help you better understand how to build your own searches. We will be using Structured Query Language (SQL) to do these searches but no prior SQL experience is required. By the end of this workshop you will know how to run cloud metadata queries to find SRA data based on parameters that are of interest to you.


    Adelaide Rhodes

    Cloud Strategist

    National Center for Biotechnology Information

    I have a Ph.D. in Zoology from NCSU and an M.S. in Biotechnology/Bioinformatics from Johns Hopkins where I honed my skills analyzing "big data” at the molecular, organismal and ecological scale. As a bioinformatician, strategic consultant and now at the National Center for Biotechnology Information, I have assisted dozens of university and government researchers to analyze cancer, crop science, bacteria, virus and plant genomes, transcriptomes and disease variant data sets. I specialize in helping researchers develop pipelines for data-driven discovery on HPC and commercial cloud computing resources (AWS and GCP) and provide consultation on ML and AI projects in the cloud.

    Adam Stine

    Sequence Read Archive Curator

    National Center for Biotechnology Information

    Adam has worked as a curator with the SRA for over 10 years. In that time he has helped submitters understand and complete the submission process, worked with sequencing centers to establish automated data submission pipelines, served on working groups for large NIH sequencing projects, and helped with the recent submission interface redesign. Adam also helped design the process of submitting metadata and accessing files in cloud storage and has taught workshops on searching for and using high throughput sequencing data on commercial cloud platforms.

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      • Undergraduate Student Member - $5
      • Emeritus Member - $5
      • Life Member - $10
      • Trainee Member - $5
      • Nonmember - $25
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  • Paper Chat: Can DNA reunify separated migrant families?

    Contains 1 Component(s)

    Chris Gunter, PhD, talks with Sara H Katsanis, MS and Elizabeth Barnert, MD, MPH, MS.

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  • Paper Chat: Approach to Consent and Disclosure for Clinicians

    Contains 1 Component(s)

    Genetically Speaking's host, Chris Gunter, PhD, talks with Kelly Ormond, MS, LCGC and Miranda L.G. Hallquist, MSc, CGC.

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      • Undergraduate Student Member - Free!
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      • Life Member - Free!
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