Keyphrases
Autoantibodies
55%
Autosomal Dominant
17%
Autosomal Recessive
36%
BRCA1, BRCA2
18%
CD55
30%
CHD4
20%
Chromosomal Microarray
19%
Clinical Outcomes
17%
Clinical Spectrum
24%
Community Data
20%
Comprehensive Investigation
20%
Constitutional Mismatch Repair Deficiency (CMMRD)
41%
COVID-19
69%
COVID-19 Pneumonia
38%
Critical COVID-19
24%
Detection Rate
17%
Developmental Delay
20%
Diagnostic Performance
21%
Diagnostic Ratios
17%
Duplication
17%
Early Onset
29%
Exome Sequencing
32%
Gain-of-function mutation
39%
Gaucher Disease
41%
Genetic Diagnosis
19%
Genetic Testing
16%
Genome Sequencing
23%
Genotype-phenotype Correlation
41%
Homozygosity
24%
Human Genetics
32%
Immunity Genes
20%
Inborn Errors
33%
Israel
46%
Israeli
49%
Life-threatening
26%
Life-threatening COVID-19
37%
Loss Function
36%
Microsatellite Instability-high (MSI-H)
20%
Missense Variants
19%
Neurodevelopmental Disorders
36%
Ovarian Cancer
17%
Pathogenic Variants
50%
Protein-losing Enteropathy
21%
SARS-CoV-2 Infection
35%
Screening Panel
20%
Toll-like Receptor 7 (TLR7)
23%
Trio Exome Sequencing
16%
Truncating Variant
22%
Type I IFN
56%
Type I Interferon
36%
Biochemistry, Genetics and Molecular Biology
Allele
13%
Array Comparative Genomic Hybridization
18%
Autoantibodies
37%
Autosomal Dominant Inheritance
43%
Autosomal Recessive Inheritance
48%
Binding Protein
20%
BRCA1
15%
BRCA2
12%
CHD4
20%
CHEK2
11%
Coronavirinae
30%
Decay-Accelerating Factor
20%
DNA Methylation
23%
DNA Mismatch Repair
20%
Eicosanoid Receptor
11%
Epigenetics
20%
Exome
13%
Exome Sequencing
78%
Exon
26%
Fibroblast
16%
Gaucher's Disease
20%
Genetic Counseling
17%
Genetic Screening
20%
Genetics
100%
Genome Sequencing
23%
Genotyping
51%
Homozygosity
21%
Human Genetics
23%
Inheritance
11%
Intellectual Disability
31%
interferon
26%
Medical Genetics
11%
Microarrays
15%
Microsatellite Instability
20%
Missense
29%
Mitochondrial Disorder
15%
Mouse
13%
Neurite Outgrowth
11%
Next Generation Sequencing
12%
Pedigree
14%
Penetrance
25%
Prevalence
15%
RNA
23%
RNA Splicing
12%
Sanger Sequencing
11%
SARS Coronavirus
59%
Single-Nucleotide Polymorphism
10%
Stop Codon
18%
TLR7
16%
Wild Type
26%
Medicine and Dentistry
Anatomy
10%
Array Comparative Genomic Hybridization
18%
BRCA1
15%
BRCA2
11%
Breast Cancer
15%
Cardiac Dysrhythmia
10%
Cardiomyopathy
20%
Central Nervous System
11%
Cohort Analysis
13%
Consultation
11%
COVID-19
51%
Decay Accelerating Factor
22%
Diagnosis
37%
Diagnostic Test
10%
Disease
40%
DNA Mismatch Repair
30%
Eculizumab
10%
Encephalocele
10%
Exome Sequencing
37%
Exon
20%
Fibrosis
11%
Gaucher's Disease
33%
Genetic Screening
12%
Genome Sequencing
11%
Genotype
11%
Heterozygosity
10%
Human Genetics
10%
Hyperactivation
11%
Infection
17%
Interferon Type I
17%
Intron
10%
Joubert Syndrome
10%
Leukocyte
13%
Malignant Neoplasm
21%
Microsatellite Instability
10%
Neonate
10%
Netrin 1
10%
Oculomotor Apraxia
11%
Ovarian Cancer
16%
Patient Satisfaction
10%
Penetrance
14%
Pregnancy Termination
13%
Prematurity
12%
Protein Losing Enteropathy
30%
RNA Analysis
10%
Severe Acute Respiratory Syndrome Coronavirus 2
23%
Stop Codon
12%
Thrombosis
20%
Toll Like Receptor 3
10%
Toll Like Receptor 7
20%
