Counsyl researchers to review findings from the largest expanded
carrier screening study published to date
SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Counsyl,
a DNA testing and genetic counseling service, will present new research
findings on carrier screening, variant classification and inherited
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disease at the 2017 American College of Medical Genetics and Genomics
(ACMG) Annual Clinical Genetics Meeting at the Phoenix Convention Center
in Phoenix, Arizona this week.
Highlights from Counsyl’s activities at ACMG include:
Satellite Symposium1 Examining the Evolution
of Carrier Screening
Counsyl experts will review findings from the largest expanded
carrier screening study to date, discuss implications for these
findings on screening guidelines and clinical practice, and explore the
technological advances in next generation sequencing that maximize
detection of at-risk couples.
Friday, March 24, 7:15am to 8:45am MST
Research Posters Presenting Clinical Insights on Genetics
Counsyl will share insights from its clinical experience in the
following poster sessions:
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Poster | Full Title | Primary Author | ||||
165 | Frequency of Mutations in Moderate Penetrance Breast Cancer Genes NBN and ATM in an Unselected Carrier Screening Population | Price, K. | ||||
315 | ClinVar Submission Profiles (Top Rated) | Kaseniit, E. | ||||
443 | High-Throughput Curation and Interpretation of Inherited Disease Variants in a CLIA Laboratory | Karimi, K. | ||||
549 | Counseling Experience with Incidental Cancer Genes in Expanded Carrier Screening | Wong, K. | ||||
757 | Copy Number Variant Calling on a 177 Gene Expanded Carrier Screening Panel Including DMD (Top Rated) | Beauchamp, K. | ||||
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Poster | Full Title | Primary Author | ||||
150 | Discordance Rates in Reduced Penetrance Genes: A Look at ATM and CHEK2 | Judkins, M. | ||||
176 | Analysis of Unique Mutation Distribution, Ethnicity and Test Indication Trends in Over 1,200 Positive Cases Identified by Inherited Cancer Screening | Bucheit, L. | ||||
346 | Duplication Tag SNP g.27134T>G Should Not Be Considered Diagnostic of SMA Carrier Status (Top Rated) | Davison, D. | ||||
736 | Ensuring high accuracy of clinically relevant results from NGS data using high-throughput, custom software that enables expert human review | Haas, K. | ||||
Exploring The Gene Machine: Book Signing and Giveaway
Counsyl will host a book signing with award-winning journalist and
author, Bonnie Rochman, whose new book, The Gene Machine: How Genetic
Technologies Are Changing the Way We Have Kids--and the Kids We Have, explores
the new frontier of genetic technologies.
Wednesday, March 22, 5:30pm to 7:30pm MST
Thursday, March 23, 10:00am to 12:00pm, 1:00pm to 3:00pm MST
Stay updated on Counsyl news during ACMG by searching for #ACMGMtg17,
and by following Counsyl on Twitter.
About Counsyl
Counsyl is a DNA testing and genetic counseling service. We're committed
to helping patients understand their DNA and how it can inform important
health decisions. Whether it’s starting a family or evaluating risk for
cancer, Counsyl's DNA tests provide patients with early awareness about
genetic conditions, so they can live informed and prepare for the
future. Counsyl has screened more than 750,000 patients and served more
than 10,000 healthcare professionals. For more information, visit www.counsyl.com.
Sign up for news announcements from Counsyl at subscribe.counsyl.com.
1 The Symposium is not part of the official ACMG Annual
Meeting program, and ACMG does not approve or endorse any commercial
products or services discussed during the Symposium or offered for sale
by the corporate supporter of the Symposium. ACMG has reviewed and
approved this symposium as appropriate for presentation as an
independent educational activity held in conjunction with the ACMG
Annual Meeting. CME credits are not provided for this sponsored session.
Contacts
Counsyl
Donelle M. Gregory