175 related articles for article (PubMed ID: 24676807)
21. Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM; Barton S; Bhaskar S; Williams SG; Sergouniotis PI; O'Sullivan J; Lamb JA; Perveen R; Hall G; Newman WG; Bishop PN; Roberts SA; Leach R; Tearle R; Bayliss S; Ramsden SC; Nemeth AH; Black GC
Ophthalmology; 2016 May; 123(5):1143-50. PubMed ID: 26872967
[TBL] [Abstract][Full Text] [Related]
22. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
Chen MJ; Wei SY; Yang WS; Wu TT; Li HY; Ho HN; Yang YS; Chen PL
Hum Reprod; 2015 Jul; 30(7):1732-42. PubMed ID: 25924657
[TBL] [Abstract][Full Text] [Related]
23. Whole-genome sequence-based genomic prediction in laying chickens with different genomic relationship matrices to account for genetic architecture.
Ni G; Cavero D; Fangmann A; Erbe M; Simianer H
Genet Sel Evol; 2017 Jan; 49(1):8. PubMed ID: 28093063
[TBL] [Abstract][Full Text] [Related]
24. A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders.
Cheung YH; Wang G; Leal SM; Wang S
Genet Epidemiol; 2012 Nov; 36(7):675-85. PubMed ID: 22865616
[TBL] [Abstract][Full Text] [Related]
25. Scanning window analysis of non-coding regions within normal-tumor whole-genome sequence samples.
Torcivia JP; Mazumder R
Brief Bioinform; 2021 May; 22(3):. PubMed ID: 32940334
[TBL] [Abstract][Full Text] [Related]
26. Whole genome sequence analysis of serum amino acid levels.
Yu B; de Vries PS; Metcalf GA; Wang Z; Feofanova EV; Liu X; Muzny DM; Wagenknecht LE; Gibbs RA; Morrison AC; Boerwinkle E
Genome Biol; 2016 Nov; 17(1):237. PubMed ID: 27884205
[TBL] [Abstract][Full Text] [Related]
27. Using imputed whole-genome sequence data to improve the accuracy of genomic prediction for parasite resistance in Australian sheep.
Al Kalaldeh M; Gibson J; Duijvesteijn N; Daetwyler HD; MacLeod I; Moghaddar N; Lee SH; van der Werf JHJ
Genet Sel Evol; 2019 Jun; 51(1):32. PubMed ID: 31242855
[TBL] [Abstract][Full Text] [Related]
28. GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE - Session Introduction.
DE LA Vega FM; Bustamante CD; Leal SM
Pac Symp Biocomput; 2011; ():74-5. PubMed ID: 21121034
[TBL] [Abstract][Full Text] [Related]
29. Localization of association signal from risk and protective variants in sequencing studies.
Brisbin A; Jenkins GD; Ellsworth KA; Wang L; Fridley BL
Front Genet; 2012; 3():173. PubMed ID: 22973297
[TBL] [Abstract][Full Text] [Related]
30. The effect of rare alleles on estimated genomic relationships from whole genome sequence data.
Eynard SE; Windig JJ; Leroy G; van Binsbergen R; Calus MP
BMC Genet; 2015 Mar; 16():24. PubMed ID: 25887220
[TBL] [Abstract][Full Text] [Related]
31. Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer's disease.
Nho K; Kim S; Horgusluoglu E; Risacher SL; Shen L; Kim D; Lee S; Foroud T; Shaw LM; Trojanowski JQ; Aisen PS; Petersen RC; Jack CR; Weiner MW; Green RC; Toga AW; Saykin AJ;
BMC Med Genomics; 2017 May; 10(Suppl 1):29. PubMed ID: 28589856
[TBL] [Abstract][Full Text] [Related]
32. Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls.
Hu YJ; Liao P; Johnston HR; Allen AS; Satten GA
PLoS Genet; 2016 May; 12(5):e1006040. PubMed ID: 27152526
[TBL] [Abstract][Full Text] [Related]
33. On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing.
Kubiritova Z; Gyuraszova M; Nagyova E; Hyblova M; Harsanyova M; Budis J; Hekel R; Gazdarica J; Duris F; Kadasi L; Szemes T; Radvanszky J
J Biotechnol; 2019 Jun; 298():64-75. PubMed ID: 30998956
[TBL] [Abstract][Full Text] [Related]
34. Statistical power and significance testing in large-scale genetic studies.
Sham PC; Purcell SM
Nat Rev Genet; 2014 May; 15(5):335-46. PubMed ID: 24739678
[TBL] [Abstract][Full Text] [Related]
35. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Belkadi A; Bolze A; Itan Y; Cobat A; Vincent QB; Antipenko A; Shang L; Boisson B; Casanova JL; Abel L
Proc Natl Acad Sci U S A; 2015 Apr; 112(17):5473-8. PubMed ID: 25827230
[TBL] [Abstract][Full Text] [Related]
36. Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.
Hollegaard MV; Grauholm J; Nielsen R; Grove J; Mandrup S; Hougaard DM
Mol Genet Metab; 2013; 110(1-2):65-72. PubMed ID: 23830478
[TBL] [Abstract][Full Text] [Related]
37. Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
Guo X; Delio M; Haque N; Castellanos R; Hestand MS; Vermeesch JR; Morrow BE; Zheng D
Hum Mol Genet; 2016 Sep; 25(17):3754-3767. PubMed ID: 27436579
[TBL] [Abstract][Full Text] [Related]
38. Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment.
Berglund EC; Lindqvist CM; Hayat S; Övernäs E; Henriksson N; Nordlund J; Wahlberg P; Forestier E; Lönnerholm G; Syvänen AC
BMC Genomics; 2013 Dec; 14(1):856. PubMed ID: 24314227
[TBL] [Abstract][Full Text] [Related]
39. Accuracy of imputation to whole-genome sequence in sheep.
Bolormaa S; Chamberlain AJ; Khansefid M; Stothard P; Swan AA; Mason B; Prowse-Wilkins CP; Duijvesteijn N; Moghaddar N; van der Werf JH; Daetwyler HD; MacLeod IM
Genet Sel Evol; 2019 Jan; 51(1):1. PubMed ID: 30654735
[TBL] [Abstract][Full Text] [Related]
40. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu J; Zhou Y; Liu S; Song X; Yang XZ; Fan Y; Chen W; Akdemir ZC; Yan Z; Zuo Y; Du R; Liu Z; Yuan B; Zhao S; Liu G; Chen Y; Zhao Y; Lin M; Zhu Q; Niu Y; Liu P; Ikegawa S; Song YQ; Posey JE; Qiu G; ; Zhang F; Wu Z; Lupski JR; Wu N
Hum Genet; 2018 Jul; 137(6-7):553-567. PubMed ID: 30019117
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
