An Educational Assessment of Evidence Used for Variant Classification-Reference-Cited by-同舟云学术

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An Educational Assessment of Evidence Used for Variant Classification

Published:2022-06 Issue:6 Volume:24 Page:555-565
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Lyon Elaine,Temple-Smolkin Robyn L.,Hegde Madhuri,Gastier-Foster Julie M.,Palomaki Glenn E.,Richards C. Sue

Funder

Association for Molecular Pathology

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference47 articles.

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

2. Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations;Arte;PLoS One,2013

3. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE);Schulz;Hum Mutat,2006

4. Molecular genetics of Pseudoxanthoma elasticum: type and frequency of mutations in ABCC6;Miksch;Hum Mutat,2005

5. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease;Xiong;Science,2015

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1. Observations from a national sample exchange program for molecular haematology testing;Pathology;2024-06

2. Comparison of the ABC and ACMG systems for variant classification;European Journal of Human Genetics;2024-05-22

3. Advancements and challenges in natural language processing in oral cancer research: A narrative review;Cancer Research, Statistics, and Treatment;2024-04

4. Comparing Classifications from Multiple Variant Annotation Software Solutions Using Real-World Next Generation Sequencing Data from Oncology Testing;Journal of Molecular Pathology;2024-03-01

5. Updates and Initiatives from The Journal of Molecular Diagnostics;The Journal of Molecular Diagnostics;2023-01

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