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Showing 10 of 536 Results

A novel de novo alteration in SLC12A6 in a patient with early onset severe progressive sensorimotor polyneuropathy and abnormal EEG

Clinical Genomics

Session:
#986

Date:
Thursday, Oct 19, 2017 2:00pm – 3:00pm

Conference:
ASHG 2017

Authors:
Mari Rossi, Kelly Radtke, Deepali Shinde, Katalin Scherer, Maureen Galindo, Zöe Powis

Abstract Poster
Type 2 Diabetes Susceptibility Variants Contribute to Breast Cancer Risk

Oncology

Session:
#692

Date:
Thursday, Oct 19, 2017 3:00pm – 4:00pm

Conference:
ASHG 2017

Authors:
Mary Helen Black, Shuwei Li, Brice A. J. Sarver, Aaron Elliott, Hsiao-Mei Lu

Abstract Poster
A model averaging approach for improved in silico variant prediction

Oncology

Session:
#679

Date:
Wednesday, Oct 18, 2017 2:00pm – 3:00pm

Conference:
ASHG 2017

Authors:
Shuwei Li, Mary Helen Black, Aaron Elliott, Yuan Tian, Dajun Qian

Abstract Poster
Hitting the target: An analysis of noncoding alterations as captured by panels and diagnostic exome sequencing at a commercial lab

Clinical Genomics
Oncology

Session:
#1537

Date:
Wednesday, Oct 18, 2017 3:00pm – 4:00pm

Conference:
ASHG 2017

Authors:
Brian Schoenfeld, Meghan Towne, Holly Laduca, Patrick Reineke, Sha Tang, Huy Vuong

Abstract Poster
Clinical exome sequencing identifies a homozygous whole-gene deletion of DPY19L2 that was not detected by a high-density single nucleotide polymorphism (SNP) array

Clinical Genomics

Session:
#590

Date:
Wednesday, Oct 18, 2017 3:00pm – 4:00pm

Conference:
ASHG 2017

Authors:
Wendy Alcaraz, Samin Sajan, Sheila Saliganan, Katherine Helbig, Brady Barrows, Rocio Martinez, Zöe Powis, Rebecca Burns, Luis Rohena, Jamie A. Massie, Elizabeth Spiteri

Abstract Poster
All in the Family: How Family History Affects Diagnostic Yield of Hypertrophic Cardiomyopathy Multigene Panel Testing

Cardiology

Session:
#517

Date:
Wednesday, Oct 18, 2017 2:00pm – 3:00pm

Conference:
ASHG 2017

Authors:
Sam Martin, Jill Dolinsky, Tami Johnston, Brissa Martin, Lily Hoang, Christian Antolik, Brittany Dougall

Abstract Poster
Attacking a VUS from multiple angles: An integrated and functional approach for reclassifying variants of uncertain significance.

Oncology

Session:
#2470

Date:
Wednesday, Oct 18, 2017 3:00pm – 4:00pm

Conference:
ASHG 2017

Authors:
Rhonda Lassiter, Jade Tinker, Adam Chamberlin, Rachid Karam, PhD, Tina Pesaran, MA, MS, CGC, Jing Wang, Elaine C. Weltmer, Heather Newman, Tiffiney Carter, Shoji Ichikawa, Igor Petrik

Abstract Poster
Exploration of germline mutation burden in a hereditary cancer panel cohort identifies gaps in cancer risk associations and testing and management guidelines.

Oncology

Session:
#2380

Date:
Wednesday, Oct 18, 2017 3:00pm – 4:00pm

Conference:
ASHG 2017

Authors:
Holly Laduca, Carin Espenschied, Jill Dolinsky, Laura Panos, Kelly Fulk, Carrie Horton, Fergus Couch, Brigette Tippin Davis, Melissa Pronold

Collaborators:

Mayo Clinic

Poster
Parental co-segregation analysis significantly reduces but does not eliminate VUS rate in multi-gene panel testing

Neurology

Session:
#73

Date:
Thursday, Oct 5, 2017 12:30pm – 2:00pm

Conference:
—

Authors:
Jade Tinker, Amanda Bergner, Elaine C. Weltmer, Tiffiney Carter, Zöe Powis, Jing Wang

Abstract Poster
Concurrent Parental Analysis On Neurodevelopmental Multi-Gene Panels Results In Fewer Variants Of Unknown Significance Reported

Neurology

Session:
#72

Date:
Thursday, Oct 5, 2017 7:00am – 8:15am

Conference:
—

Authors:
Jade Tinker, Amanda Bergner, Elaine C. Weltmer, Tiffiney Carter, Zöe Powis, Jing Wang

Abstract

… …

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A novel de novo alteration in SLC12A6 in a patient with early onset severe progressive sensorimotor polyneuropathy and abnormal EEG

Type 2 Diabetes Susceptibility Variants Contribute to Breast Cancer Risk

A model averaging approach for improved in silico variant prediction

Hitting the target: An analysis of noncoding alterations as captured by panels and diagnostic exome sequencing at a commercial lab

Clinical exome sequencing identifies a homozygous whole-gene deletion of DPY19L2 that was not detected by a high-density single nucleotide polymorphism (SNP) array

All in the Family: How Family History Affects Diagnostic Yield of Hypertrophic Cardiomyopathy Multigene Panel Testing

Attacking a VUS from multiple angles: An integrated and functional approach for reclassifying variants of uncertain significance.

Exploration of germline mutation burden in a hereditary cancer panel cohort identifies gaps in cancer risk associations and testing and management guidelines.

Parental co-segregation analysis significantly reduces but does not eliminate VUS rate in multi-gene panel testing

Concurrent Parental Analysis On Neurodevelopmental Multi-Gene Panels Results In Fewer Variants Of Unknown Significance Reported

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