Skip to main content

Table 3 Quality measures for huvariome genomes

From: Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

FEATURE

Ti/Tv

Hetero/homo

CDS

2.99

1.13

INTERGENIC

2.07

1.15

INTRON

2.22

1.15

UTR

2.15

1.17

DONOR

2.81

0.97

TSS

2.08

1.16

ACCEPTOR

2.42

1.21

SYNONYMOUS

5.20

1.40

MISSENSE

2.14

1.28

NONSENSE

1.93

1.37

  1. The transition (ti) to transversion (tv) and heterozygous (hetero) to homozygous (homo) ratios for SNVs were calculated for several regions of the genome, coding regions (CDS), intergenic, intronic (INTRON), untranslated region (UTR), splice sites (DONOR and ACCEPTOR), transcription region (TSS), and for different impact on the resultant protein sequence, no change in sequence (SYNONYMOUS), a change in the protein sequence with no change in size of protein (MISSENSE) and an early termination of protein translation (NONSENSE).
Back to article page

Journal of Clinical Bioinformatics

ISSN: 2043-9113