Functional annotation of variants from healthy individuals
The implications of germline de novo variants (DNVs) in diseases are well documented. Despite extensive research, inconsistencies between studies remain a challenge, and the distribution and genetic characteristics of DNVs need to be precisely evaluated. To address this issue at the whole-genome sca...
Saved in:
Main Authors: | Jean Lee, Sung Eun Hong |
---|---|
Format: | Article |
Language: | English |
Published: |
BioMed Central
2019-12-01
|
Series: | Genomics & Informatics |
Subjects: | |
Online Access: | http://genominfo.org/upload/pdf/gi-2019-17-4-e46.pdf |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Whole genome sequence data of Trichoderma yunnanense strain TM10, a plant growth-promoting fungus and biocontrol agentNCBI
by: Dedat Prismantoro, et al.
Published: (2025-02-01) -
Fungal genomes: suffering with functional annotation errors
by: Tapan Kumar Mohanta, et al.
Published: (2021-11-01) -
Generation of Whole-Genome Sequencing Data for Comparing Primary and Castration-Resistant Prostate Cancer
by: Jong-Lyul Park, et al.
Published: (2018-09-01) -
CaGe: A Web-Based Cancer Gene Annotation System for Cancer Genomics
by: Young-Kyu Park, et al.
Published: (2012-03-01) -
Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of <i>ACE2</i>, <i>IFI44</i>, and <i>NDUFAF4</i> in Long-Lasting Olfactory Dysfunction
by: Beatrice Spedicati, et al.
Published: (2025-01-01)