Related by context. All words. (Click for frequent words.) 69 missense mutations 69 chromosome #q# [002] 69 #S rRNA 69 VNTR 68 mosaicism 68 microdeletion 68 #p#.# [001] 68 paternally inherited 67 mitochondrial DNA mtDNA 67 autosomal recessive 67 de novo mutations 67 mtDNA 67 homozygosity 66 maternally inherited 66 karyotype 66 microsatellite markers 66 MECP2 gene 66 mitochondrial gene 66 germline mutations 65 genetic loci 65 autosomal dominant 65 monozygotic 65 indels 65 C#Y 65 TCF#L# gene 65 allelic 65 monogenic 65 orthologs 65 penetrance 64 chromosome #q# [001] 64 MYH9 gene 64 recessive inheritance 64 haplotypes 64 Supplementary Table 64 rRNA 64 monozygotic twins 64 NF1 gene 64 cis regulatory 64 karyotypes 64 amino acid substitution 64 MSH2 64 Y chromosomal 64 BARD1 64 #q#.# [001] 64 mitochondrial genome 64 mutant allele 64 genomewide 64 aneuploidies 64 kilobase 64 chromosome #q#.# [001] 63 ORFs 63 gene locus 63 microdeletions 63 BAC clones 63 MLH1 63 nucleotide sequence 63 differential gene expression 63 A. thaliana 63 Arabidopsis genome 63 microcephalin 63 #S rRNA gene 63 quantitative trait loci 63 phylogenetically 63 PALB2 63 allele frequencies 63 cytochrome b 63 MTHFR gene 63 chromosome #p# [001] 63 heterozygotes 63 heterozygous 63 CYP#D# gene 63 ribosomal DNA 63 spontaneous mutations 62 methylation patterns 62 inherited maternally 62 sporadic ALS 62 susceptibility gene 62 insertions deletions 62 aneuploid 62 splice junctions 62 haplotype 62 MYBPC3 62 #p# [003] 62 mitochondrial genomes 62 coding exons 62 promoter methylation 62 proband 62 haplogroups 62 TP# gene 62 transcriptomes 62 autosomes 62 clonally 62 #q#.# [002] 62 phylogenetic analyzes 62 somatic mutations 62 microsatellite instability 62 miRNA expression 62 transgenic mice expressing 62 KIAA# 62 LRAT 62 HFE gene 62 intergenic 62 inbred strains 62 phenotypic variation 62 ADRB2 62 SLITRK1 62 CHEK2 62 MLL gene 62 chromosomal rearrangements 61 CNTNAP2 61 CFTR gene 61 nucleotide sequences 61 chromosome #q 61 NPM1 gene 61 HLA DQ 61 IgA deficiency 61 phenotype 61 mRNA transcripts 61 MTHFR 61 chromosome #p#.# 61 primate genomes 61 #p# [001] 61 LPA gene 61 Alu elements 61 polygenic 61 CNVs 61 MC1R 61 FMR1 gene 61 number variation CNV 61 dizygotic twins 61 methyltransferase 61 PTPN# 61 insertion deletion 61 cDNAs 61 haplotype map 61 sequence homology 61 #q# [001] 61 chromosomal aberrations 61 normal karyotype 61 somatic mutation 61 paralogs 61 Haplogroup 61 Haplotype 61 gene MECP2 61 unmethylated 61 familial ALS 61 familial aggregation 61 microRNA expression 61 phenotypic expression 61 autosomal dominant disorder 61 alternatively spliced 61 orthologous 61 Li Fraumeni syndrome 61 yeast genome 61 MLL2 60 COL#A# 60 CCR5 delta# 60 gametophyte 60 subcellular localization 60 #S ribosomal RNA 60 SLC#A# gene [001] 60 archaeal 60 dizygotic 60 STK# gene 60 genomic variation 60 miRNAs miR 60 chromosome #q#.# [002] 60 apolipoprotein E gene 60 frameshift mutation 60 dinucleotide 60 maize genome 60 #q# deletion 60 APOL1 60 protein isoforms 60 chromosomal anomalies 60 FMR1 60 CDH1 60 chromatin immunoprecipitation ChIP 60 IKZF1 60 #q# [002] 60 aCGH 60 VHL gene 60 RNA sequences 60 prion gene 60 #p#.# [002] 60 alleles 60 Phylogenetic analysis 60 SCN5A 60 Mendelian 60 intronic 60 SRY gene 60 R#W [002] 60 Cytogenetic 60 clinicopathologic 60 recessive mutation 60 loci 60 methylenetetrahydrofolate reductase 60 indel 60 pseudogenes 60 clade B 60 diploid genome 60 chromosomal regions 60 variant allele 60 globin genes 60 transcriptome sequencing 60 SNP rs# [001] 60 missense mutation 60 K ras mutations 60 cM 60 splice variants 60 orthologous genes 60 transgenic mouse models 60 heterozygosity 60 GNAQ 60 monophyletic 60 centromeres 59 ZNF# 59 uniparental 59 mutant alleles 59 genome rearrangements 59 chimpanzee genomes 59 C#BL/#J 59 Leydig cells 59 autosomal recessive disease 59 chromosomal alterations 59 rs# [002] 59 incomplete penetrance 59 CDKN2A 59 D. melanogaster 59 virulence genes 59 membrane proximal 59 multigenic 59 KLF4 59 neuroligins 59 inherited mutations 59 exome 59 missense 59 IRAK1 59 recombination hotspots 59 SNP rs# [002] 59 rs# [004] 59 QTLs 59 Hutchinson Gilford progeria 59 Y STR 59 lymphoblastoid cell lines 59 beta globin gene 59 chromosomal deletions 59 segmental duplications 59 heterozygote 59 progranulin gene 59 HLA genes 59 RFLP 59 hierarchical clustering 59 coding sequences 59 Figure 2C 59 maternal lineage 59 heritable variation 59 MAOA gene 59 distinct subtypes 59 5 hydroxymethylcytosine 59 susceptibility genes 59 malaria parasite genome 59 previously undescribed 59 noncoding 59 polymorphisms 59 chromosomal rearrangement 59 neuropsychiatric disorder 59 nucleotide substitutions 59 ALK mutations 59 genotyping arrays 59 sCJD 59 germline cells 59 APOE e4 59 CDK4 59 Homozygous 59 susceptibility locus 59 multivariate Cox 59 homozygous 59 androgen receptor gene 59 phylogenetic analysis 59 PTEN mutations 59 haploid 59 Genotypic 59 PITX2 59 fraternal twin pairs 59 HMGA2 59 amino acid sequences 59 gene expression profiles 59 CNTNAP2 gene 59 array CGH 59 CCL#L# 59 cDNA libraries 59 immunofluorescent 59 phenotypically 59 polyploid 59 endophenotypes 59 recessive trait 59 gastric carcinoma 59 severe congenital neutropenia 59 #S rRNA genes 59 mutated K ras 59 BRCA1 BRCA2 59 genetic lineages 59 breast cancer subtypes 59 IDH1 gene 59 differentially expressed genes 59 CHD7 59 chromosomal translocations 59 dopamine transporter gene 59 DNA methylation patterns 58 beta globin 58 ApoE gene 58 autosomal recessive disorder 58 germline 58 ABCB1 58 NNRTI resistance 58 Meckel Gruber 58 HLA DQ2 58 susceptibility loci 58 DLC1 58 allelic variants 58 C#T [002] 58 homodimer 58 Single Nucleotide Polymorphisms SNPs 58 causative genes 58 chromosome abnormality 58 proteomic analysis 58 epigenetically 58 5q 58 immunodeficiencies 58 At#g# 58 fruitfly Drosophila 58 single nucleotide polymorphism 58 lymphoid cells 58 linkage disequilibrium 58 p# biomarker 58 rs# rs# 58 Single Nucleotide Polymorphism 58 ligand receptor 58 epistasis 58 genotypic 58 substrate specificity 58 mtDNA sequence 58 telomere DNA 58 HLA DRB1 58 heterochromatic 58 causal variants 58 fig. S4 58 centromeric 58 allelic variation 58 catechol O methyltransferase 58 immunohistochemical 58 metazoan 58 PCR RFLP 58 mutations 58 amino acid substitutions 58 Chromosomal 58 HLA loci 58 Histologic 58 LIS1 58 causative gene 58 exomes 58 contigs 58 fungal genomes 58 TIMP 58 TACI mutations 58 medulloblastomas 58 SHANK3 58 polyadenylation 58 p# mutation 58 mammalian genome 58 chromosome #p# [002] 58 autism susceptibility genes 58 metabolomic profiles 58 eukaryote 58 HLA alleles 58 isotype 58 gene loci 58 methylated DNA 58 kilobases 58 aneuploidy 58 functional polymorphism 58 NR#A# 58 chromosomal DNA 58 DICER1 gene 58 oligodendrogliomas 58 TMPRSS2 ERG fusion 58 H#K#me# 58 telomeric 58 nucleotide substitution 58 gene amplification 58 major histocompatibility complex 58 NF1 58 Drosophila genome 58 evolutionarily conserved 58 M. genitalium 58 Transcriptome 58 CYP#C# gene 58 variant rs# 58 NR#A# gene 58 coexpression 58 untranslated regions 58 Trichophyton rubrum 58 immunofluorescence staining 58 premutation 58 HPRT gene 58 alpha synuclein gene 58 LRRK2 gene 58 STAT4 58 fig. S1 58 constitutively active 58 ADH1B * 58 Leydig cell 58 hepatoma 58 genomically 58 MYH9 58 histologic subtype 58 enteroviral 58 SNPs 58 CYP#E# gene 58 5 HTT gene 58 quantitative RT PCR 58 hepatocellular carcinomas 58 ENPP1 58 chromosomal 58 ribosomal RNA rRNA 58 SLC#A# [001] 58 sequenced genomes 58 HLA B# 58 IL#B 57 C. neoformans 57 siRNAs targeting 57 segmental duplication 57 p# mutations 57 hypermethylated 57 mutation 57 genomic alterations 57 organism genome 57 carboxy terminal 57 miRNA sequences 57 Alleles 57 #S rDNA 57 protein phosphorylation 57 epigenetic modification 57 cytosine methylation 57 bacterial genomes 57 Fragile X gene 57 hypervariable 57 glutamic acid decarboxylase 57 mutational analysis 57 polynucleotide 57 progressive neurodegenerative disorder 57 5 methylcytosine 57 homologs 57 CYP#C# [002] 57 intergenic regions 57 bisulfite sequencing 57 haematopoietic 57 FGFR2 57 PCR amplified 57 gene APOE 57 TOP2A 57 Western blotting 57 multivariable analysis 57 doublecortin 57 synuclein 57 ventricular myocardium 57 lung adenocarcinomas 57 Venter genome 57 SMAD4 57 idiotype 57 microRNA miR 57 HMGA2 gene 57 miRNA genes 57 C1q 57 breast carcinomas 57 UGT#B# 57 constitutively expressed 57 dominantly inherited 57 supertree 57 histone modifications 57 transcriptome 57 meiotic recombination 57 chordate 57 spontaneous mutation 57 amplicon 57 suppressor gene 57 totipotent 57 CagA 57 PRNP 57 etiologic agent 57 X chromosome 57 5 hmC 57 Germline 57 Multivariate analysis 57 siRNA knockdown 57 genomic loci 57 syngeneic 57 phosphorothioate 57 Mitochondrial DNA 57 TEL AML1 57 PFGE 57 phenotypic traits 57 RT qPCR 57 Chronic lymphocytic leukemia 57 operons 57 genetic polymorphism 57 N glycan 57 logistic regression analysis 57 tumorigenicity 57 homodimers 57 clinicopathological 57 chloroplast genome 57 genotyped 57 ortholog 57 embryonal 57 ribosomal protein 57 methylation markers 57 transgene expression 57 olfactory receptor 57 chromatin structure 57 cyclin E 57 hyperplastic 57 diploid 57 hamartomas 57 chromosome 57 homolog 57 homozygote 57 phylogeny 57 immunohistochemical staining 57 chronic myeloid 57 Sanger sequencing 57 activating mutation 57 ChIP seq 57 coding genes 57 genotypes 57 S. cerevisiae 57 GBM tumors 57 ABCB1 gene 57 molecular abnormalities 57 telomere dysfunction 57 familial clustering 57 CRISPR Cas 57 RNA binding 57 plastid 57 K ras gene 57 gene rearrangements 57 serine protease 57 extramedullary 57 mucinous 57 K#N 57 unmutated 57 Jhdm2a 57 Haptoglobin 57 polymorphism 57 genetic locus 57 genes predisposing 57 mammalian genomes 57 tRNA synthetase 57 Fas ligand 57 CAG repeats 57 subfamilies 57 Aspergillus nidulans 57 zebrafish genome 57 HNPCC 57 phylogenies 57 cDNA microarray 57 GenBank accession 57 codons 57 RhD 57 positional cloning 57 immunocytochemistry 57 imprinted genes 57 rs# [001] 57 PON1 57 mitochondrial DNA 57 ORMDL3 57 pilocytic astrocytomas 57 heritable traits 57 seropositivity 57 abnormal chromosomes 57 non coding RNA 57 causative mutations 57 KRAS oncogene 57 BRAF V#E 57 FUS1 57 splice variant 57 histocompatibility 57 metazoans 57 autoinflammatory 57 c KIT 57 mtDNA mutations 57 BRAF protein 57 condensin 57 cybrid 57 microarray datasets 57 FGFR3 57 Xenopus 57 TSC1 56 MC1R gene 56 heterologous expression 56 Poisson regression 56 Polymorphism 56 quantitative PCR 56 gene duplications 56 herpesviruses 56 monocytic 56 Immunohistochemical analysis 56 etiologic 56 nonhereditary 56 FADS2 gene 56 phylogenetic trees 56 transcriptional repressor 56 heritable 56 human leukocyte antigen 56 papillary renal cell carcinoma 56 ploidy 56 Mycoplasma genitalium 56 V3 loop 56 TAp# 56 null mice 56 nonidentical 56 introgression 56 homologues 56 GSTP1 56 IDH2 56 modifier genes 56 Wwox 56 FTLD 56 lymphocytic 56 genetic variant 56 PTEN gene 56 C#BL 6 56 KIF6 gene 56 Kufs disease 56 Trypanosoma brucei 56 dimeric 56 neoplasm 56 DRD2 gene 56 homologous 56 genomewide association studies 56 chromosome deletion 56 cytopathic 56 chimp genomes 56 morphologic 56 ERBB2 56 ADPKD 56 Yamanaka recipe 56 breast cancer genes BRCA1 56 Apolipoprotein E 56 centromere 56 TCF#L# 56 CFH gene 56 FXTAS 56 pDC 56 transcriptional profiles 56 number variations CNVs 56 Supplementary Fig 56 sarcomatoid 56 MAPK pathway 56 chromatin modification 56 FGFR2 gene 56 mRNA encoding 56 cytokeratin 56 cytogenetic 56 JAK2 mutation 56 prokaryote 56 M. pneumoniae 56 transcriptional regulation 56 exon 56 NRTI resistance 56 phenotypic 56 neural progenitor 56 isotypes 56 pathogenic mutations 56 guanine G 56 deacetylation 56 ncRNA 56 cell adhesion molecule 56 jawed vertebrates 56 parkin gene 56 Amino acid 56 Klinefelter syndrome 56 essential thrombocythemia 56 amplicons 56 Histone 56 cisplatin resistant 56 microarray analysis 56 TMEM#B 56 mitotic progression 56 KRAS mutations 56 DNA demethylation 56 SSc 56 hemagglutinin gene 56 caveolin 56 Genetic variation 56 histone modification 56 eukaryotic 56 BCL#A 56 abnormal p# 56 multivariate analyzes 56 chromatid 56 colocalization 56 protein tyrosine phosphatase 56 PON1 gene 56 diagnostic biomarker 56 Deoxyribonucleic acid DNA 56 transmembrane protein 56 radial glia 56 GSTT1 56 neuroanatomical 56 viral genomes 56 Fig. 1E 56 piRNAs 56 VKORC1 56 HMMR 56 L. pneumophila 56 cynomolgus macaques 56 MMP# 56 situ hybridization 56 ChIP chip 56 STK# [002] 56 dopamine D4 receptor 56 medulloblastoma tumors 56 cellular prion protein 56 CC genotype 56 serine threonine kinase 56 Plasmodium vivax 56 metaphase 56 homology 56 homeobox gene 56 Fig. 3a 56 BRAF V#E mutation 56 centrosome 56 nongenetic 56 #q#.# deletion syndrome 56 metaplasia 56 3'UTR 56 ESR1 56 homologous chromosomes 56 EGFP 56 Prox1 56 EBNA1 56 Bardet Biedl syndrome 56 histopathological 56 chromatin proteins 56 exonuclease 56 transcriptional machinery 56 WAGR syndrome 56 melanocyte 56 genotype 56 genomic deletions 56 DNA rearrangements 56 Neandertal DNA 56 congenital disorders 56 transcriptome profiling 56 causative mutation 56 ependymomas 56 serologic 56 haplotyping 56 amino acid residues 56 BDNF gene 56 dbSNP 56 bilaterians 56 telomere lengths 56 endogenous retroviruses 56 miRNA expression profiles 56 genomic imprinting 56 ataxias 56 microbiomes 56 hereditary hemochromatosis 56 homologous sequences 56 hominoids 56 human leukocyte antigen HLA 56 Xenopus laevis 56 homology modeling 56 primordial germ cells 56 exons 56 putative biomarkers 56 myeloid 56 allele 56 selfing 56 retrotransposon 56 CFTR gene mutations 56 mitochondrial genome sequence 56 autosomal recessive genetic 56 HMGCR 56 Microarray analysis 56 transcriptomic 56 Neuregulin 1 56 genes CYP#C# 56 multiple logistic regression 56 P. patens 56 SDS PAGE 56 genes encoding 56 dimorphic 56 LRP5 56 CISH 56 X inactivation 56 NS5B 56 germline mutation 56 HepG2 cells 56 chromosomal abnormalities 56 differentially regulated 56 oligonucleotide probes 56 vimentin 55 mRNA expression 55 MC4R gene 55 aneuploidy screening 55 PCR assay 55 p# INK4a 55 genes differentially expressed 55 Hox gene 55 EGFR gene 55 RRM1 55 S. pombe 55 FGF signaling 55 paramyxoviruses 55 trinucleotide 55 APOE genotype 55 5 HTTLPR 55 short hairpin RNAs 55 PGCs 55 polyploidy 55 holoprosencephaly 55 Single Nucleotide Polymorphisms 55 monogenic disorders 55 linkage disequilibrium LD 55 genomic variants 55 allele frequency 55 amino acid sequence 55 gene expression patterns 55 parthenogenetic 55 noncoding RNAs 55 immunostaining 55 qRT PCR 55 SMN1 55 phenotypes 55 SMN2 gene 55 Janus kinase 55 HbF 55 Genotypes 55 nonsense mutations 55 p# alpha [002] 55 probands 55 homologous genes 55 Retinitis pigmentosa 55 rDNA 55 RNA polymerases 55 GISTs 55 FLT3 55 inferential statistics 55 thymine 55 ciliated 55 PNET 55 TP# mutation 55 evolutionary conserved 55 MicroRNA 55 Polymorphisms 55 forkhead 55 clades 55 CD# expression [001] 55 bases adenine 55 K#R [002] 55 myeloproliferative 55 homologies 55 IL#R 55 heterochromatin 55 klotho 55 DRD2 55 HHV 6 55 inhibitory receptor 55 D#N 55 T. vaginalis 55 pancreatic endocrine 55 clade C 55 intron 55 eIF2 55 neural crest 55 mtDNA sequences 55 survival motor neuron 55 Myotonic dystrophy 55 dysbindin 55 retinoic acid receptor 55 aberrant methylation 55 Mutational 55 replicon 55 chromosomal instability 55 NPM1 mutations 55 Immunohistochemical staining 55 phylogeographic 55 LMNA 55 PrPSc 55 HLA molecules 55 microarray gene expression 55 NOD mouse 55 leucine zipper 55 conditional logistic regression 55 phenotypic characteristics 55 histologic findings 55 HLA B 55 microRNA molecules 55 synthases 55 differentially expressed proteins 55 LVNC 55 Clusterin 55 Placental 55 fetal aneuploidy 55 haplogroup 55 M. capricolum 55 TOMM# 55 extracellular domains 55 human leukocyte antigens 55 logistic regression model 55 G#D 55 SOCS3 55 chromatin immunoprecipitation 55 posttranslational modifications 55 nucleated cells 55 GBA mutations 55 QTL mapping 55 tyrosine phosphorylation 55 colorectal carcinoma 55 E#F# 55 transgenic mouse model 55 motor neuron degeneration 55 transcriptional activation 55 CpG 55 hypogonadotropic hypogonadism 55 1 diabetes T1D 55 histone acetylation 55 RNA transcripts 55 granule cells 55 plastids 55 C. trachomatis 55 genetic imprinting 55 immunofluorescence 55 maternally transmitted 55 DEAR1 55 Histopathologic 55 MT1 MMP 55 thymidylate synthase TS 55 generalized vitiligo 55 Bos taurus 55 SHANK3 gene 55 inactivating mutations 55 MHC molecules 55 KCNQ1 55 genomewide association study 55 mutational 55 MGUS 55 Leukemias 55 RNA seq 55 subtyping 55 nucleosome positioning 55 granulosa cell 55 sexually dimorphic 55 flow cytometric 55 vertebrate embryos 55 DNA methyltransferase 55 aneuploid cells 55 protein encoded 55 genetic rearrangements 55 RPE# gene 55 molecular subtypes 55 disulfide bond 55 perilipin 55 nucleic acid sequence 55 hydroxylase 55 lacZ 55 cagA 55 apoE4 55 anterior pituitary 55 operon 55 Y chromosomes 55 multigene 55 comparative genomic hybridization CGH 55 genomic sequence 55 microarray experiments 55 tumor specific antigen 55 lincRNA 55 ontogenetic 55 euchromatin 55 site directed mutagenesis 55 CYP #D# 55 COMT gene 55 SNP arrays 55 HLA DR 55 proteomes 55 Fragile X mental retardation 55 IGF2 55 amyloidogenic 55 apoE 55 gp# protein [002] 55 nucleotide 55 HER2 overexpression 55 UGT#A# * 55 nucleotide variations 55 phenotyping