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Index
A
|
B
|
C
|
D
|
E
|
F
|
G
|
H
|
I
|
K
|
L
|
M
|
N
|
P
|
R
|
S
|
T
|
U
|
V
|
W
|
X
|
Z
A
allele
allele heterogeneity
analysis
aneuploidy
autosomal
autosomal dominant
autosomal recessive
B
base pair
biallelic
Bioinformatics
C
carrier
carrier frequency
carrier rate
chromosome
clone
CNV
CODIS
codon
Compound heterozygosity
congenital
consanguinity
constitutional DNA
Container
copy number variant
cosegregation
cytogenetics
D
de novo mutation
de novo variant
deleterious mutation
deletion
deoxyribonucleic acid
depth of coverage
disease-causing mutation
DNA
domain
double heterozygosity
E
epigenetic alteration
epigenetic variant
epigenetics
epimutation
ER-negative PR-negative HER2/neu-negative breast cancer
euchromatin
exome
exon
F
facies
false-positive result
familial
Family
family history
family medical history
FDR
first-degree relative
FISH
fluorescence in situ hybridization
founder mutation
founder variant
frameshift mutation
frameshift variant
G
gene
genetic anticipation
genetic heterogeneity
genetic marker
genetic predisposition
genetic screening
genetic susceptibility
genetic variant
genome-wide association study
genomic imprinting
genotype
germline
germline DNA
germline variant
GWAS
H
haploinsufficiency
haplotype
hemizygous
heritability
heterochromatin
heteroduplex analysis
heterogeneity logarithm of the odds score
heterozygous genotype
HLOD score
homozygous genotype
I
index case
informative
inherited cancer syndrome
insertion
intron
inversion
K
kindred
L
late or variable onset
LD
linkage
linkage analysis
linkage disequilibrium
locus
locus heterogeneity
M
microsatellite
microsatellite instability
missense mutation
missense variant
mitochondiral DNA
MLPA
mode of inheritance
mosaicism
MSI
multigene test
multiple-gene panel test
multiple-gene test
multiplex genomic test
multiplex ligation-dependent probe amplification
mutation
mutation analysis
N
negative predictive value
new mutation
new variant
next generation sequencing
NGS
noncarrier
nonpenetrance
nonsense mutation
nonsense variant
novel mutation
novel variant
NPV
nucleotide
null allele
nutrigenomics
P
pathogenic variant
pathognomonic
Patient
PCR
pedigree
penetrance
phenocopy
phenotype
point mutation
point variant
polymerase chain reaction
polymorphism
population risk
positive predictive value
PPV
predisposing mutation
presymptomatic testing
proband
proposita
propositus
pseudogene
R
recurrence risk
ribosomal RNA
risk assessment
S
sample
sanger sequencing
screening
SDR
second-degree relative
segregation analysis
sensitivity
simplex case
single nucleotide polymorphism
single-stranded conformational polymorphism
skin tag
SNP
somatic variant
Southern blot
specificity
splice-site mutation
splice-site variant
splicing
sporadic cancer
SSCP
SSCP analysis
surveillance
susceptibility gene
T
tagging SNP
tagSNP
telomere
throughput
transcription
translation
translocation
trichilemmoma
trinucleotide repeat
Trio
triple-negative breast cancer
trisomy
tumor sequencing
tumor suppressor gene
U
unaffected
unclassified variant
uninformative
V
variable expression
variant
variant of uncertain significance
variant of unknown significance
VUS
W
WES
WGS
whole-exome sequencing
whole-genome sequencing
X
X-linked dominant
X-linked recessive
Z
Z-score
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