Keyphrases
1000 Genomes Project
7%
Autism
100%
Autism Risk
10%
Autism Spectrum Disorder
53%
Caregivers
9%
CHD8
12%
Chiari Malformation
15%
Chromodomain
15%
Clinical Phenotype
10%
Coding Variants
22%
Computational Genetics
15%
Copy number Variation
24%
De-novo mutations
33%
Disruptive mutation
9%
Duplication
8%
Exome
13%
Exome Sequencing
10%
Genetic Etiology
9%
Genetic mutation
7%
Genetic Risk
8%
Genetic Variant Interpretation
15%
Genome Interpretation
19%
Genome Sequencing
15%
Highly Accurate
7%
Hirschsprung Disease
9%
Human Genetics
10%
Identify Risk
10%
Inherited Variants
13%
Intellectual Disability
8%
Interpretation Method
15%
Long-read Sequencing
13%
Missense mutation
12%
Missense Variants
15%
Multiplex Families
15%
Neurodevelopmental Disorders
75%
Neurofibromatosis Type 1 (NF-1)
10%
Neurofibromatosis Type I
9%
Next-generation Sequencing
7%
Non-coding
12%
Non-coding Variants
8%
Pathogenic Variants
11%
Phenotypic Characteristics
7%
Proband
15%
Risk Genes
25%
Sex Differences
10%
Simplex
16%
Single nucleotide Variant
17%
Targeted Sequencing
18%
Variant Calling
11%
Whole Genome Sequencing
11%
Biochemistry, Genetics and Molecular Biology
Allele
17%
Amino Acids
6%
B Cell
5%
Bioinformatics
7%
Candidate Gene
10%
Cell Fate
10%
CHD8
21%
Chromodomain
20%
CpG Site
6%
CRISPR/Cas9
5%
Down Syndrome Cell Adhesion Molecule
7%
Enhancer Region
9%
Exome
31%
Exome Sequencing
25%
Exon
7%
Gene Discovery
6%
Gene Expression
6%
Genetic Counseling
7%
Genetic Disorder
14%
Genetic Divergence
20%
Genetic Risk
13%
Genetics
69%
Genome Sequencing
15%
Genomics
40%
Genotyping
17%
Germ Cell
8%
Germline
8%
Haploinsufficiency
6%
Human Genetics
12%
Intellectual Disability
15%
Karyotype
11%
Missense
29%
Missense Mutation
17%
Molecular Genetics
11%
Mutation Rate
12%
Negative Selection (Natural Selection)
6%
Next Generation Sequencing
24%
Offspring
11%
Parental Age
12%
Population
8%
Proband
27%
Promoter Region
6%
Quantitative Technique
5%
Rare Variant
8%
Regulatory Element
7%
Sample Size
9%
Single-Nucleotide Polymorphism
23%
Whole Genome Sequencing
35%
X Chromosome
7%
Zebra Fish
6%
