Keyphrases
Autism
100%
Neurodevelopmental Disorders
70%
Autism Spectrum Disorder
53%
De-novo mutations
33%
Risk Genes
25%
Copy number Variation
24%
Coding Variants
22%
Genome Interpretation
19%
Targeted Sequencing
18%
Single nucleotide Variant
17%
Simplex
16%
Chromodomain
15%
Chiari Malformation
15%
Interpretation Method
15%
Genetic Variant Interpretation
15%
Computational Genetics
15%
Multiplex Families
15%
Genome Sequencing
15%
Proband
15%
Exome
13%
Long-read Sequencing
13%
Inherited Variants
13%
Non-coding
12%
Missense mutation
12%
CHD8
12%
Variant Calling
11%
Pathogenic Variants
11%
Whole Genome Sequencing
11%
Human Genetics
10%
Sex Differences
10%
Clinical Phenotype
10%
Neurofibromatosis Type 1 (NF-1)
10%
Identify Risk
10%
Missense Variants
10%
Exome Sequencing
10%
Autism Risk
10%
Disruptive mutation
9%
Neurofibromatosis Type I
9%
Caregivers
9%
Genetic Etiology
9%
Hirschsprung Disease
9%
Duplication
8%
Non-coding Variants
8%
Genetic Risk
8%
Intellectual Disability
8%
Phenotypic Characteristics
7%
Genetic mutation
7%
Highly Accurate
7%
1000 Genomes Project
7%
Next-generation Sequencing
7%
Biochemistry, Genetics and Molecular Biology
Genetics
69%
Genomics
39%
Whole Genome Sequencing
34%
Exome
30%
Proband
27%
Next Generation Sequencing
24%
Exome Sequencing
24%
Single-Nucleotide Polymorphism
23%
Missense
23%
CHD8
21%
Chromodomain
20%
Genetic Divergence
20%
Genotyping
17%
Allele
17%
Missense Mutation
17%
Genome Sequencing
15%
Intellectual Disability
15%
Genetic Disorder
14%
Genetic Risk
13%
Parental Age
12%
Mutation Rate
12%
Human Genetics
12%
Molecular Genetics
11%
Progeny
11%
Karyotype
11%
Cell Fate
10%
Candidate Gene
10%
Sample Size
9%
Enhancer Region
9%
Germ Cell
8%
Germline
8%
Population
8%
Genetic Counseling
7%
Down Syndrome Cell Adhesion Molecule
7%
Exon
7%
X Chromosome
7%
Regulatory Element
7%
Promoter Region
6%
Negative Selection (Natural Selection)
6%
Gene Expression
6%
Gene Discovery
6%
Haploinsufficiency
6%
Zebra Fish
6%
CpG Site
6%
Amino Acids
6%
Quantitative Technique
5%
CRISPR/Cas9
5%
B Cell
5%
Tumor Suppressor Gene
5%
Copy-Number Variation
5%
