1011 related articles for article (PubMed ID: 28415856)
1. Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.
Chakravorty S; Hegde M
Annu Rev Genomics Hum Genet; 2017 Aug; 18():229-256. PubMed ID: 28415856
[TBL] [Abstract][Full Text] [Related]
2. Inferring the effect of genomic variation in the new era of genomics.
Chakravorty S; Hegde M
Hum Mutat; 2018 Jun; 39(6):756-773. PubMed ID: 29633501
[TBL] [Abstract][Full Text] [Related]
3. Genomic medicine and risk prediction across the disease spectrum.
Kotze MJ; Lückhoff HK; Peeters AV; Baatjes K; Schoeman M; van der Merwe L; Grant KA; Fisher LR; van der Merwe N; Pretorius J; van Velden DP; Myburgh EJ; Pienaar FM; van Rensburg SJ; Yako YY; September AV; Moremi KE; Cronje FJ; Tiffin N; Bouwens CS; Bezuidenhout J; Apffelstaedt JP; Hough FS; Erasmus RT; Schneider JW
Crit Rev Clin Lab Sci; 2015; 52(3):120-37. PubMed ID: 25597499
[TBL] [Abstract][Full Text] [Related]
4. Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.
Strande NT; Berg JS
Annu Rev Genomics Hum Genet; 2016 Aug; 17():303-32. PubMed ID: 27362341
[TBL] [Abstract][Full Text] [Related]
5. Next generation sequencing: implications in personalized medicine and pharmacogenomics.
Rabbani B; Nakaoka H; Akhondzadeh S; Tekin M; Mahdieh N
Mol Biosyst; 2016 May; 12(6):1818-30. PubMed ID: 27066891
[TBL] [Abstract][Full Text] [Related]
6. Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.
Kassahn KS; Scott HS; Caramins MC
Hum Mutat; 2014 Apr; 35(4):413-23. PubMed ID: 24510514
[TBL] [Abstract][Full Text] [Related]
7. VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Desvignes JP; Bartoli M; Delague V; Krahn M; Miltgen M; Béroud C; Salgado D
Nucleic Acids Res; 2018 Jul; 46(W1):W545-W553. PubMed ID: 29860484
[TBL] [Abstract][Full Text] [Related]
8. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
[TBL] [Abstract][Full Text] [Related]
9. [Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosis].
Huang Y; Liu Q; Chi LJ; Shi CM; Wu Z; Hu M; Shi H; Chen H
Yi Chuan; 2018 Nov; 40(11):1015-1023. PubMed ID: 30465534
[TBL] [Abstract][Full Text] [Related]
10. Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.
Yang H; Wang K
Nat Protoc; 2015 Oct; 10(10):1556-66. PubMed ID: 26379229
[TBL] [Abstract][Full Text] [Related]
11. Vanno: a visualization-aided variant annotation tool.
Huang PJ; Lee CC; Tan BC; Yeh YM; Huang KY; Gan RC; Chen TW; Lee CY; Yang ST; Liao CS; Liu H; Tang P
Hum Mutat; 2015 Feb; 36(2):167-74. PubMed ID: 25196204
[TBL] [Abstract][Full Text] [Related]
12. wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders.
Li MJ; Deng J; Wang P; Yang W; Ho SL; Sham PC; Wang J; Li M
Hum Mutat; 2015 May; 36(5):496-503. PubMed ID: 25676918
[TBL] [Abstract][Full Text] [Related]
13. Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.
Hamzeh AR; Andrews TD; Field MA
Methods Mol Biol; 2021; 2243():1-25. PubMed ID: 33606250
[TBL] [Abstract][Full Text] [Related]
14. India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.
Zhang JF; James F; Shukla A; Girisha KM; Paciorkowski AR
BMC Res Notes; 2017 Jun; 10(1):233. PubMed ID: 28655339
[TBL] [Abstract][Full Text] [Related]
15. Next-Generation Sequencing: The Translational Medicine Approach from "Bench to Bedside to Population".
Beigh MM
Medicines (Basel); 2016 Jun; 3(2):. PubMed ID: 28930123
[TBL] [Abstract][Full Text] [Related]
16. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.
Abou Tayoun AN; Krock B; Spinner NB
Expert Rev Mol Diagn; 2016 Sep; 16(9):987-99. PubMed ID: 27388938
[TBL] [Abstract][Full Text] [Related]
17. Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa.
Kotze M
S Afr Med J; 2016 May; 106(6 Suppl 1):S114-8. PubMed ID: 27245544
[TBL] [Abstract][Full Text] [Related]
18. Controversy and debate on clinical genomics sequencing-paper 1: genomics is not exceptional: rigorous evaluations are necessary for clinical applications of genomic sequencing.
Wilson BJ; Miller FA; Rousseau F
J Clin Epidemiol; 2017 Dec; 92():4-6. PubMed ID: 28870871
[TBL] [Abstract][Full Text] [Related]
19. Next generation sequencing in cancer: opportunities and challenges for precision cancer medicine.
Paolillo C; Londin E; Fortina P
Scand J Clin Lab Invest Suppl; 2016; 245():S84-91. PubMed ID: 27542004
[TBL] [Abstract][Full Text] [Related]
20. The current state of clinical interpretation of sequence variants.
Hoskinson DC; Dubuc AM; Mason-Suares H
Curr Opin Genet Dev; 2017 Feb; 42():33-39. PubMed ID: 28157586
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]