Biochemistry, Genetics and Molecular Biology
Genomics
48%
Copy-Number Variation
41%
Genetics
39%
Exome Sequencing
36%
Intellectual Disability
36%
Microarrays
32%
Single-Nucleotide Polymorphism
30%
Whole Genome Sequencing
24%
Genetic Divergence
16%
Homozygosity
15%
Exome
15%
Indel
13%
Genetic Variation
12%
Genotyping
12%
Haplotype
11%
Human Genome
11%
RNA Sequence
10%
Next Generation Sequencing
10%
Gene Dosage
10%
Germ Cell
10%
Germline
10%
Genetic Screening
9%
Autosomal Recessive Inheritance
8%
Single Nucleotide Polymorphism
8%
Genome Sequencing
8%
Gene Fusion
8%
Low Copy Repeats
8%
Copy Number Analysis
7%
Cytogenetics
7%
Comparative Genomic Hybridization
7%
Retinitis pigmentosa
7%
Haploinsufficiency
7%
Cognition
7%
Epigenetics
7%
X Chromosome
6%
Mosaicism
6%
Allele
6%
Population
6%
Genetic Disorder
6%
Molecular Inversion Probe
6%
Aneuploidy
5%
Magnetism
5%
High Throughput Sequencing
5%
DNA Sequence
5%
Maternal Inheritance
5%
Progeny
5%
Keyphrases
Copy number Variation
100%
Intellectual Disability
43%
Whole Exome Sequencing
19%
SNP Array
18%
Dutch
18%
Netherlands
17%
Clinically Significant
17%
Exome Sequencing
17%
Neurodevelopmental Disorders
16%
Duplication
15%
Clinical Significance
15%
Genome-wide Microarray
13%
RNA Sequencing (RNA-seq)
12%
High-resolution
11%
Gene Copy number Variation
11%
Whole Genome Sequencing
11%
Homozygosity Mapping
10%
Diagnostic Performance
10%
Germ Cells
10%
Intracranial Volume
9%
Tumor
9%
Microarray
9%
Large Cohort
8%
16p11.2
8%
Autosomal Recessive
8%
Pediatric
8%
Severe Intellectual Disability
7%
Dose-response
7%
Diagnostic Test
7%
Pediatric Cancer
7%
Human Genome
7%
Precision Oncology
7%
Exome
7%
Routine Diagnostics
7%
Genetic Variation
7%
Basal Ganglia
7%
Developmental Disorders
7%
Copy number Profiling
7%
22q11.2 Deletion Syndrome
7%
Platform Comparison
7%
Novel mutation
7%
Koolen-de Vries Syndrome
7%
X Chromosome
6%
Structural Variation
6%
Genome Sequencing
6%
Structural Variants
6%
Disease Genes
6%
Autism
6%
Brain Structure
6%
Aberrations
6%
