Uncovering Missing Heritability in Rare Diseases

Uncovering Missing Heritability in Rare Diseases

The problem of ‘missing heritability’ affects both common and rare diseases hindering: discovery, diagnosis, and patient care. The ‘missing heritability’ concept has been mainly associated with common and complex diseases where promising modern technological a...

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Bibliographic Details
Main Authors: Tatiana Maroilley, Maja Tarailo-Graovac
Format: Article
Language:English
Published: MDPI AG 2019-04-01
Series:Genes
Subjects:
missing heritability
rare disease
genome sequencing
long/short read sequencing
bioinformatics
variant detection
variant annotation
variation databases
Online Access:https://www.mdpi.com/2073-4425/10/4/275

Internet

https://www.mdpi.com/2073-4425/10/4/275

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