Keywords: Abbreviation; Annotation; nsSNVs; Non-Synonymous Single-Nucleotide Variants; MLTs; Machine Learning Techniques; SVM; Support Vector Machine; RF; Random Forest; ANN; Artificial Neural Network; SDM; Site-Directed Mutate; APOGEE; The pathogenicity Prediction
مقالات ISI (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: HCM; hypertrophic cardiomyopathy; DCM; dilatative cardiomyopathy; RCM; restrictive cardiomyopathy; ARVC; arrhythmogenic right ventricular cardiomyopathy; NGS; next generation sequencing; NsSNV; non-synonymous single nucleotide variant; ECG; electrocardiog
A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family
Keywords: CADD; Combined annotation dependent depletion; CC; Congenital cataract; CRYGS; crystallin gamma S; DAPI; 4â²,6-diamidino-2-phenylindole; ECL; Enhanced chemiluminescence; FATHMM; Functional analysis through Hidden Markov models; LOD; Logarithm of the odds
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia
Keywords: CDA; congenital dyserythropoietic anaemias; PolyPhen; Polymorphism Phenotyping v2; SIFT; Sorting Intolerant From Tolerant; MAF; minor allele frequency; Provean; Protein Variation Effect Analyzer; ExAC; Exome Aggregation Consortium; SNP; single nucleotide
A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients
Keywords: PD; Parkinson's disease; GBA; glucocerebrosidase gene; PolyPhen-2; polymorphism phenotyping v2; dbSNP 142; single nucleotide polymorphism database 142; ExAC; Exome Aggregation Consortium database; L-DOPA; L-3,4-dihydroxyphenylalanine; SIFT; Sorting Into
Computational analysis of deleterious SNPs of SLC45A2 involved in oculocutaneous albinism type 4
Keywords: SNP; Single nucleotide polymorphism; SLC45A2; Solute carrier family 45, member 2; OCA4; Oculocutaneous albinism Type 4; nsSNP; Non-synonymous single nucleotide polymorphism; OA; Ocular albinism; TYR; Tyrosinase; TYRP1; Tyrosinase related protein 1; MATP;
Assessment of DNA repair susceptibility genes identified by whole exome sequencing in head and neck cancer
Keywords: AAS; Amino Acid Substitution; BAM; Binary Alignment Map; BER; Base Excision Repair; CI; Confidence Interval; CVC; Cross Validation Consistency; dbSNP; Single Nucleotide Polymorphism database; DDG; The predicted free energy change value; DSBR; Double Stran
Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease
Keywords: MPS IVA; Mucopolysaccharidosis type 4 -A; GALNS; N-acetylgalactosamine-6-sulfatase; GAGs; Glycosaminoglycans; NRC; National Research Centre; MPSs; Mucopolysaccharidoses; GLB1; β-Galactosidase; KS; Keratan Sulfate; C6S; Chondroitin-6-Sulfate; kDa; Kilo
Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease
Keywords: PD; Parkinson's disease; AD; Alzheimer's disease; TREM2; the triggering receptor expressed on myeloid cells 2 gene; VPS35; the vacuolar protein sorting 35 gene; EIF4G1; the eukaryotic translation initiation factor 4-gamma 1 gene; S100B; the S100 calci
Exome and genome sequencing for inborn errors of immunity
Keywords: Next-generation sequencing; whole-exome sequencing; whole-genome sequencing; targeted sequencing; primary immunodeficiency; AD; Autosomal dominant; AF; Allele frequency; AR; Autosomal recessive; CADD; Combined annotation-dependent depletion; CID; Combined
GJB2-associated hearing loss undetected by hearing screening of newborns
Keywords: AABR; automated auditory brainstem response; ABR; auditory brainstem-evoked response; AOAE; automated otoacoustic emissions; Cx26; connexin 26; HI; hearing impairment; I/I; biallelic inactivating; I/NI; compound heterozygous inactivating/non-inactivating;