Tristan Nelson
Overview
Explore the profile of Tristan Nelson including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
8
Citations
108
Followers
0
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Wright M, Thaxton C, Nelson T, DiStefano M, Savatt J, Brush M, et al.
Annu Rev Biomed Data Sci
. 2024 Apr;
7(1):31-50.
PMID: 38663031
Clinical genetic laboratories must have access to clinically validated biomedical data for precision medicine. A lack of accessibility, normalized structure, and consistency in evaluation complicates interpretation of disease causality, resulting...
2.
Dalton K, Rehm H, Wright M, Mandell M, Krysiak K, Babb L, et al.
Pac Symp Biocomput
. 2022 Dec;
28:531-535.
PMID: 36541006
The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings...
3.
Goar W, Babb L, Chamala S, Cline M, Freimuth R, Hart R, et al.
Pac Symp Biocomput
. 2022 Dec;
28:383-394.
PMID: 36540993
As the diversity of genomic variation data increases with our growing understanding of the role of variation in health and disease, it is critical to develop standards for precise inter-system...
4.
Wagner A, Babb L, Alterovitz G, Baudis M, Brush M, Cameron D, et al.
Cell Genom
. 2022 Mar;
1(2).
PMID: 35311178
Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced "verse"),...
5.
Pawliczek P, Patel R, Ashmore L, Jackson A, Bizon C, Nelson T, et al.
Hum Mutat
. 2018 Oct;
39(11):1690-1701.
PMID: 30311374
Effective exchange of information about genetic variants is currently hampered by the lack of readily available globally unique variant identifiers that would enable aggregation of information from different sources. The...
6.
Riggs E, Nelson T, Merz A, Ackley T, Bunke B, Collins C, et al.
Hum Mutat
. 2018 Aug;
39(11):1650-1659.
PMID: 30095202
Conflict resolution in genomic variant interpretation is a critical step toward improving patient care. Evaluating interpretation discrepancies in copy number variants (CNVs) typically involves assessing overlapping genomic content with focus...
7.
Patel R, Shah N, Jackson A, Ghosh R, Pawliczek P, Paithankar S, et al.
Genome Med
. 2017 Jan;
9(1):3.
PMID: 28081714
Background: The success of the clinical use of sequencing based tests (from single gene to genomes) depends on the accuracy and consistency of variant interpretation. Aiming to improve the interpretation...
8.
Duda M, Nelson T, Wall D
BMC Med Genet
. 2012 Nov;
13:114.
PMID: 23190421
Background: Technological leaps in genome sequencing have resulted in a surge in discovery of human disease genes. These discoveries have led to increased clarity on the molecular pathology of disease...