Keyphrases
Genome Sequencing
100%
Clinical Sequencing
69%
Research Consortium
51%
Variant Interpretation
34%
Neurodevelopmental Disorders
31%
Likely Pathogenic Variant
29%
Exome Sequencing
28%
Interpretation Guidelines
23%
Clinical Genomics
22%
Medical Genomics
21%
Intellectual Disability
21%
Genomic Medicine
19%
Proband
18%
American College of Medical Genetics
17%
Patient Perspective
17%
Developmental Delay
17%
Genetic Diagnosis
17%
Clinically Significant
17%
Family History
16%
GTP Cyclohydrolase I
15%
Human Genetics
15%
Encyclopedia
15%
Evidence-based Practice
15%
DNA Elements
15%
DNA Methylation (DNAm)
15%
Family History Questionnaire
15%
Health Care Costs
15%
Diagnostic Test
15%
Genetic Variation
15%
Genetic Findings
13%
Variant Classification
12%
Phosphorylation
11%
Human Genome
11%
Clinical Utility
11%
Health Initiatives
11%
Genomic Health
11%
Implementation Research
11%
Children with Intellectual Disability
11%
Parkinson's Disease
11%
Whole Exome Sequencing
11%
Clinical Exome Sequencing
11%
Clinical Genome Sequencing
11%
Transcription Factor
10%
Clinical Diagnosis
10%
Genomic Data
10%
Molecular Diagnostics
10%
Clinically Relevant Variants
9%
Drosophilidae
9%
Incidental
9%
Rare Diseases
9%
Biochemistry, Genetics and Molecular Biology
Genome Sequencing
95%
Genomics
73%
Genetics
66%
Exome Sequencing
38%
Intellectual Disability
37%
Genetic Divergence
32%
Human Genome
29%
Proband
24%
Genetic Variation
21%
DNA Methylation
17%
Human Genetics
15%
Adenosine Monophosphate
15%
GTP Cyclohydrolase I
15%
Methylation
15%
Medical Genomics
14%
Medical Genetics
14%
Exome Sequencing
13%
N-Terminus
13%
Missense
12%
C-Terminus
11%
Enzyme
11%
Germ Cell
11%
Germline
11%
Exome
10%
Mosaicism
10%
Exon
9%
Genetic Screening
9%
Amino Acids
9%
Genotyping
9%
Anabolism
9%
Genetic Disorder
8%
DNA Sequence
8%
Sapropterin
8%
Mass Screening
7%
Dopaminergic
7%
Tyrosine Hydroxylase
7%
Clinical Decision Making
7%
Mediator Complex
7%
Deep Sequencing
7%
Isoform
7%
Drosophila Melanogaster
7%
Bromodomain Phd-Finger Transcription Factor
7%
Epigenetics
7%
Diamond-Blackfan Anemia
7%
Population
7%
Transcription Factors
7%
Germline Mutation
7%
Somatic Mutation
7%
Dysplasia
7%
Fusion Transcript
7%
