دانلود مقالات ISI درباره Gatk + ترجمه فارسی

واکنش های ژن متابولیسم کندرویتین سولفات در طوفان ترومبوتیک

Variants in chondroitin sulfate metabolism genes in thrombotic storm

Keywords: TS; thrombotic storm; CS; chondroitin sulfate; APS; antiphospholipid antibody syndrome; aPL; antiphospholipid antibodies; TM; thrombomodulin; PROC; protein C; PROS1; protein S; PLG; plasminogen; PLAT; plasminogen activator; WES; whole exome sequencing; CG

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2018 سفارش ترجمه

بررسی مولکولی بالینی متمرکز شده از 1000 خانواده متوالی با بیماری های مجاری ادراری

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Keywords: AD; autosomal dominant; ADNIV; autosomal dominant neovascular inflammatory vitreoretinopathy; AR; autosomal recessive; AR-1; autosomal recessive-1 allele identified; ARMS; amplification refractory mutation system; AZOOR; acute zonal occult outer retinopat

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2017 سفارش ترجمه

بررسی کوتاهی از انواع که خواستار تک سلولی توالی اطلاعات با برنامه های کاربردی هستند

A short review of variants calling for single-cell-sequencing data with applications

Keywords: CNVs; copy-number variants; SNPs; single-nucleotide polymorphisms; MDA; multiple-displacement amplification; MALBAC; multiple-annealing-and-looping-based amplification cycles; GATK; genome analysis toolkit; ADO; allele dropout; WGA; whole-genome amplifica

دانلود رایگان متن کامل مقاله ISI 20 صفحه سال انتشار : 2017 سفارش ترجمه

توالی آمیزشی کامل بیماران پراکنده با سندرم خرچنگ: گزارش سه

Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios

Keywords: CS; Currarino Syndrome; MNX1; Motor Neuron and Pancreas Homeobox; Mb; Megabase; SNV; single nucleotide variant; ETV3L; ETS Variant 3 Like; ARID5A; AT-rich interactive domain-containing protein 5A; NCAPD3; non-SMC condensin II complex subunit D3; ARM; Anor

دانلود رایگان متن کامل مقاله ISI 22 صفحه سال انتشار : 2017 سفارش ترجمه

توالی آمیخته کامل نشان داد که دو جهش جدید در سندرم آرسر وجود دارد

Whole-exome sequencing revealed two novel mutations in Usher syndrome

Keywords: RP; retinitis pigmentosa; WES; whole-exome sequencing; USH1; Usher type 1; USH2; Usher type 2; USH3; Usher type 3; USH2A; Usher type 2A; VEP; visual evoked potential; ERG; electroretinogram; DNA; deoxyribonucleic acid; GATK; Genome Analysis Toolkit; SNSs;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2015 سفارش ترجمه

توالی عام کامل 10 دانشمند: ارزیابی روند و نتایج

Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes

Keywords: GATK; Genome Analysis Toolkit; HGMD; Human Mutation Database; IRB; institutional review board; VUS; variants of uncertain significance; WES; whole-exome sequencing;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2015 سفارش ترجمه

Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects

Keywords: CTDs; Conotruncal heart defects; CHDs; Congenital heart defects; TOF; Tetralogy of Fallot; TGA; Transposition of the great arteries; DORV; Double outlet right ventricle; PA/VSD; Pulmonary atresia with ventricular septal defect; PTA; Persistent truncus art

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2018 سفارش ترجمه

Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases

Keywords: AR; autosomal recessive; EB; epidermolysis bullosa; GATK; Genome Analysis Toolkit; HM; homozygosity mapping; Mb; mega base pair; NGS; next-generation sequencing; ROH; region of homozygosity; SNP; single nucleotide polymorphism; WES; whole-exome sequencing

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2018 سفارش ترجمه

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane

Keywords: AMD; age-related macular degeneration; ARMS2; Age-Related Maculopathy Susceptibility 2; ANNOVAR; Annotate Variation; CADD; Combined Annotation Dependent Depletion; CFH; complement factor H; CFI; complement factor I; CMC; Combined Multivariate and Collaps

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children

Keywords: NS; nephrotic syndrome; SRNS; steroid resistance nephrotic syndrome; SSNS; steroid sensitive nephrotic syndrome; GFR; glomerular filtration rate; FSGS; focal segmental glomerulosclerosis; MCD; minimal change disease; NPHS2; nephrosis-2-idopathic-steroid r

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

Keywords: Lipodystrophy; POLD1 gene; Whole-exome sequencing; MDPL syndrome; ZnF2; MDPL; Mandibular hypoplasia, deafness, progeroid features and lipodystrophy syndrome; POLD1; Polymerase (DNA directed), delta 1, catalytic subunit; MAD; Mandibuloacral dysplasia; ZMPS

دانلود رایگان متن کامل مقاله ISI 34 صفحه سال انتشار : 2017 سفارش ترجمه

Targeted capture massively parallel sequencing analysis of LCIS and invasive lobular cancer: Repertoire of somatic genetic alterations and clonal relationships

Keywords: Massively parallel sequencing; Invasive lobular carcinoma; Lobular carcinoma in situ; Clonality; Somatic genetic alterations; LCIS; lobular carcinoma in situ; TCGA; The Cancer Genome Atlas; ILC; invasive lobular carcinoma; LOH; loss of heterozygosity; MSK

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

HLA-F coding and regulatory segments variability determined by massively parallel sequencing procedures in a Brazilian population sample

Keywords: HLA-F; MHC; Variability; Polymorphisms; Haplotypes; Next Generation Sequencing; NGS; VCF; variant call format; μL; microliters (10−6 litro); DNA; deoxyribonucleic acid; GATK; Genome Analysis Toolkit; HLA; human leukocyte antigens; IMGT; international i

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

Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance

Keywords: ACMG; American College of Medical Genetics and Genomics; ADI-R; Autism Diagnostic Interview-Revised; ADOS; Autism Diagnostic Observation Schedule; ANK; ankyrin repeat; ASD; autism spectrum disorder; BDNF; brain derived neurotrophic factor; BWA; Burrows-Wh

دانلود رایگان متن کامل مقاله ISI 36 صفحه سال انتشار : 2016 سفارش ترجمه

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Keywords: Atopy; immune deficiency; hyper-IgE; neurocognitive impairment; phosphoglucomutase 3; glycosylation; allergy; autoimmunity; APC; Allophycocyanin; CDG; Congenital disorder of glycosylation; CFSE; Carboxyfluorescein succinimidyl ester; DOCK8; Dedicator of c

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2014 سفارش ترجمه

Immune deficiencies, infection, and systemic immune disordersWhole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias

Keywords: Combined immunodeficiency with multiple intestinal atresias; tetratricopeptide repeat domain 7A; whole-exome sequencing; thymus; CID-MIA; Combined immunodeficiency with multiple intestinal atresias; GATK; Genome Analysis Toolkit; GvHD; Graft-versus-host d

دانلود رایگان متن کامل مقاله ISI 26 صفحه سال انتشار : 2013 سفارش ترجمه