Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

OA Location

https://www.medrxiv.org/content/medrxiv/early/2023/04/03/2023.04.03.23287612.full.pdf

Author(s)

Josephs, Katherine S

Roberts, Angharad M

Theotokis, Pantazis

Walsh, Roddy

Ostrowski, Philip J

more

Type

Preprint

Date Issued

2023-04-03

Citation

Cold Spring Harbor Laboratory, 2023

URI

http://hdl.handle.net/10044/1/104401

URL

https://www.medrxiv.org/content/10.1101/2023.04.03.23287612v1

DOI

https://www.dx.doi.org/10.1101/2023.04.03.23287612

Journal / Book Title

Cold Spring Harbor Laboratory

Copyright Statement

© 2023 The Author(s). It is made available under a CC-BY 4.0 International license.

License URL

http://creativecommons.org/licenses/by/4.0/

Sponsor

British Heart Foundation

Sir Jules Thorn Charitable Trust

Wellcome Trust

National Heart & Lung Institute Foundation

Identifier

https://www.medrxiv.org/content/10.1101/2023.04.03.23287612v1

Grant Number

RE/18/4/34215

21 JTA

200990/A/16/Z

N/A