INIS
genetics
100%
genes
94%
patients
89%
defects
48%
diseases
45%
testing
40%
mutations
29%
mitochondria
27%
panels
23%
carriers
22%
data
22%
probes
19%
proteins
19%
risks
18%
phenotype
17%
cost
17%
brain
15%
dna
15%
netherlands
14%
nmr imaging
14%
laboratories
13%
screening
13%
implementation
12%
resolution
12%
infants
12%
comparative evaluations
11%
atrophy
10%
sequence analysis
10%
utilities
10%
pediatrics
10%
Biochemistry, Genetics and Molecular Biology
Exome Sequencing
83%
Genetics
57%
Next Generation Sequencing
45%
Exome
32%
Genetic Screening
29%
Mitochondrial DNA
22%
Preimplantation
21%
Whole Genome Sequencing
21%
Molecular Inversion Probe
18%
Magnetic Resonance Imaging
16%
Genetic Disorder
16%
Proband
16%
Autosomal Dominant Inheritance
12%
Autosomal Recessive Disorder
10%
Leber's Congenital Amaurosis
10%
DNA Sequence
10%
Translation (Protein Synthesis)
10%
Protein Sequencing
10%
Mitochondrial Gene
10%
Illumina Dye Sequencing
10%
Germ Cell
10%
SLC19A3
10%
Leigh's Disease
10%
Heritable Disease
10%
Retinitis pigmentosa
10%
Penetrance
10%
Genetic Risk
10%
Autosomal Recessive Inheritance
10%
Oxidative Phosphorylation
10%
Transcriptome
10%
Keyphrases
Whole Exome Sequencing
48%
Next-generation Sequencing
36%
Exome
28%
Pathogenic Variants
25%
Genetic Defects
25%
Consanguineous
24%
Genome Diagnostics
21%
Haplarithmisis
21%
Whole Genome Sequencing
21%
Preimplantation Genetic Diagnosis
21%
Clinical Grade
21%
Mitochondrial DNA
21%
Molecular Inversion Probes
19%
Exome Sequencing
16%
Netherlands
16%
Genetic Disease
14%
Non-consanguineous
13%
Dutch
13%
Gene Defects
12%
Multigenic Diseases
12%
MRI Abnormalities
12%
Early Onset
12%
Perrault Syndrome
10%
Neonate
10%
Effective Sequence
10%
Protein Translation
10%
Retinitis pigmentosa
10%
Poor Clinical Outcomes
10%
Leber Congenital Amaurosis
10%
Early childhood
10%
