Dosage Sensitivity Curation

The Dosage Sensitivity Curation task team uses a systematic process by which to evaluate the evidence supporting or refuting the dosage sensitivity of individual genes and genomic regions. This information can ultimately be used to inform future cytogenomic microarray designs and clinical interpretation decisions.

Subgroups Documents Tools Membership

What is the process?

We have outlined the framework for such a process in a 2012 Clinical Genetics article (PMID: 22097934).

Riggs et al. 2012. Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet 81(5):403-12.

How can I access the Dosage Sensitivity Map?

All of our reviews are publically available online - view the information we have compiled on completed genes, track our progress, request that a gene be evaluated, or ask us questions through the Dosage Sensitivity Map site. The information can also be downloaded in bulk via FTP, and files are updated daily.

ClinGen Dosage Sensitivity Map

FTP site for Dosage Sensitivity Map data

How can I help?

Evaluating all the genes in the genome is a monumental task, and we need your help! If you are interested in becoming involved with this committee, please contact us at clingen@clinicalgenome.org.

Chairs
Erica Andersen PhD, FACMG
McKinsey Goodenberger CGC
John Herriges PhD
Erin Riggs, MS, CGC
Erik Thorland PhD, FACMG
Coordinators
Please contact a coordinator if you have questions.
Elizabeth Gavrilov BA
egavrilov@geisinger.edu

Subgroups

Documents

Tools & Resources

  • Dosage Sensitivity Tools
    Dosage Sensitivity Tools

    The ClinGen Dosage Sensitivity tools aid the curation process that collects evidence supporting/refuting the haploinsufficiency and triplosensitivity of genes and genomic regions. The interface is currently restricted to Dosage Sensitivity curators.

    Curations

Working Group Membership

Membership spans many fields, including genetics, medical, academia, and industry.

Chairs

Coordinators

Marwah Abdulrahman
Redeemer Adawu Biochemist
Monira Alshehri
Tere H Anzurez Aguilar
Monica Araujo MSc
Sindhu Arun
Pakeeza Arzoo Shaiq
Victoria Ashton
Kayleigh Avello MS, CGC
Annie Baxter MS, CGC
Karli Branch BSc
Brian Bunke
Rachel Burnside MBA, PhD
Daniel Calame MD, PhD
Yang Cao PhD, FACMG
Alexander Chapin PhD
Lauren Choate PhD
Bradley Coe PhD
Laura Conlin PhD, FACMG
Caitlin Cooney CGC
Noah Dillon PhD
Dibyendu Dutta, PhD
Adele Fairclough BSc
Anna Feitzinger PhD
Patricia Fernandez Ferri PhD, FACMG
Adelaide Fierti MSc
Kristina Garcia, CGC
Meagan Gloven-Brown BSc, MHS
Samantha Harker MS
Ted Higginbotham MSc
Ben Hilton, PhD, FACMG
Nicole Hoppman, PhD, FACMG
Apoorva Iyengar PhD
Alexis Jimenez MS
Vaidehi Jobanputra PhD, FACMG
Charu Kaiwar MBBS, MS, FACMG
Oguzhan Kalyon PhD
SIBEL KANTARCI, MSc, MBA, PhD, FACMG
Chimene Kesserwan MD, FACMG
Wahab Khan PhD, FACMG
Laura Kline MSc, CGC
Prasad Kopparapu PhD
Angela Lager PhD, FACMG
Kelly Laughlin, MS
JEE LEE MD
Brynn Levy MSc, MPhil, PhD
Zoe Lewis MS, CGC
Lili Li MD, PhD
Minjie Luo PhD
Michelle Mah MSc, MLT
Bailey Mallon MS, CGC
Christa Martin PhD, FACMG
Moses Mathenge BSc, MSc
Nihal Menabawy MD
Sharon Molinari MS, CGC
Aniruddha Mundhada, MBBS, MD
Jaime Nagy, PhD
Lindsay O'Boyle
Abbie Padeganeh PhD, FACMG, CGMB, CCG
Ankita Patel PhD, dabmgg
Lauren Pearo BSc (Hons)
Scott Pearson PhD
Justin Pennypacker, MS, MB(ASCP)CM
Daniel Pineda-Alvarez MD, FACMG
Lucilla Pizzo PhD
Lindsey Power, PhD
Kristen Rasmussen CGC
Hiba Risheg PhD
Cassandra Runke CGC
Laura Sack PhD, FACMG
Ramakrishnan Sasi PhD
Yiping Shen PhD
Sheetal Shetty PhD
Azadeh Shojaei
Surbhi Singh MSc
Scott C. Smith PhD, FACMG
Fariborz Soheili PhD
Meng Su PhD, FACMG
Anam Tajammal MSc
Joy Tanaka PhD
Li Tang
Andrea Vaags PhD, FCCMG
Diogo Ventura Lovato BSc, PhD
Wei Wang PhD, FACMG
Sainan Wei FACMG
Karen Woodward PhD
Sulin Wu MD, PhD
Lei Zhang PhD
shulin Zhang PhD
Jian Zhao PhD, FACMG