دانلود مقالات ISI درباره Polymorphism Phenotyping V2 + ترجمه فارسی

مطالعه بررسی: تکنیک های محاسباتی برای انتظار تاثیر منافع تک نوکلئوتیدی غیرمنتظره در بیماری های انسانی

A review study: Computational techniques for expecting the impact of non-synonymous single nucleotide variants in human diseases

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

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2019 سفارش ترجمه

آنالیز مولکولی ژن های سارکوئیک و غیر سارکوئیک در بیماران مبتلا به کراتومیوپاتی هیپرتروفی

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy

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

دانلود رایگان متن کامل مقاله ISI 29 صفحه سال انتشار : 2016 سفارش ترجمه

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; 4′,6-diamidino-2-phenylindole; ECL; Enhanced chemiluminescence; FATHMM; Functional analysis through Hidden Markov models; LOD; Logarithm of the odds

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2018 سفارش ترجمه

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

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2018 سفارش ترجمه

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

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2018 سفارش ترجمه

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;

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2018 سفارش ترجمه

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

دانلود رایگان متن کامل مقاله ISI 31 صفحه سال انتشار : 2018 سفارش ترجمه

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

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2017 سفارش ترجمه

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

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2016 سفارش ترجمه

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

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2016 سفارش ترجمه

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;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه