These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Gene-specific metrics to facilitate identification of disease genes for molecular diagnosis in patient genomes: a systematic review. Alyousfi D; Baralle D; Collins A Brief Funct Genomics; 2019 Feb; 18(1):23-29. PubMed ID: 30312370 [TBL] [Abstract][Full Text] [Related]
4. Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes. Das A; Panitz F; Gregersen VR; Bendixen C; Holm LE BMC Genomics; 2015 Dec; 16():1043. PubMed ID: 26645365 [TBL] [Abstract][Full Text] [Related]
5. The humankind genome: from genetic diversity to the origin of human diseases. Belizário JE Genome; 2013 Dec; 56(12):705-16. PubMed ID: 24433206 [TBL] [Abstract][Full Text] [Related]
6. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Nelson MR; Wegmann D; Ehm MG; Kessner D; St Jean P; Verzilli C; Shen J; Tang Z; Bacanu SA; Fraser D; Warren L; Aponte J; Zawistowski M; Liu X; Zhang H; Zhang Y; Li J; Li Y; Li L; Woollard P; Topp S; Hall MD; Nangle K; Wang J; Abecasis G; Cardon LR; Zöllner S; Whittaker JC; Chissoe SL; Novembre J; Mooser V Science; 2012 Jul; 337(6090):100-4. PubMed ID: 22604722 [TBL] [Abstract][Full Text] [Related]
7. Human gene essentiality. Bartha I; di Iulio J; Venter JC; Telenti A Nat Rev Genet; 2018 Jan; 19(1):51-62. PubMed ID: 29082913 [TBL] [Abstract][Full Text] [Related]
8. Coalescent Inference Using Serially Sampled, High-Throughput Sequencing Data from Intrahost HIV Infection. Dialdestoro K; Sibbesen JA; Maretty L; Raghwani J; Gall A; Kellam P; Pybus OG; Hein J; Jenkins PA Genetics; 2016 Apr; 202(4):1449-72. PubMed ID: 26857628 [TBL] [Abstract][Full Text] [Related]
10. Human genome sequence variation and the influence of gene history, mutation and recombination. Reich DE; Schaffner SF; Daly MJ; McVean G; Mullikin JC; Higgins JM; Richter DJ; Lander ES; Altshuler D Nat Genet; 2002 Sep; 32(1):135-42. PubMed ID: 12161752 [TBL] [Abstract][Full Text] [Related]
11. Selection Probability for Rare Variant Association Studies. Lee G; Sun H J Comput Biol; 2017 May; 24(5):400-411. PubMed ID: 28281787 [TBL] [Abstract][Full Text] [Related]
12. Deep sequencing of 10,000 human genomes. Telenti A; Pierce LC; Biggs WH; di Iulio J; Wong EH; Fabani MM; Kirkness EF; Moustafa A; Shah N; Xie C; Brewerton SC; Bulsara N; Garner C; Metzker G; Sandoval E; Perkins BA; Och FJ; Turpaz Y; Venter JC Proc Natl Acad Sci U S A; 2016 Oct; 113(42):11901-11906. PubMed ID: 27702888 [TBL] [Abstract][Full Text] [Related]
13. Whole genome sequencing and comparative genomics of closely related Fusarium Head Blight fungi: Fusarium graminearum, F. meridionale and F. asiaticum. Walkowiak S; Rowland O; Rodrigue N; Subramaniam R BMC Genomics; 2016 Dec; 17(1):1014. PubMed ID: 27938326 [TBL] [Abstract][Full Text] [Related]
14. OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants. Boudellioua I; Kulmanov M; Schofield PN; Gkoutos GV; Hoehndorf R Sci Rep; 2018 Oct; 8(1):14681. PubMed ID: 30279426 [TBL] [Abstract][Full Text] [Related]
15. Reconciling high-throughput gene essentiality data with metabolic network reconstructions. Blazier AS; Papin JA PLoS Comput Biol; 2019 Apr; 15(4):e1006507. PubMed ID: 30973869 [TBL] [Abstract][Full Text] [Related]
16. Population genetic nature of copy number variation. Sjödin P; Jakobsson M Methods Mol Biol; 2012; 838():209-23. PubMed ID: 22228014 [TBL] [Abstract][Full Text] [Related]
17. Signatures of selection in tilapia revealed by whole genome resequencing. Xia JH; Bai Z; Meng Z; Zhang Y; Wang L; Liu F; Jing W; Wan ZY; Li J; Lin H; Yue GH Sci Rep; 2015 Sep; 5():14168. PubMed ID: 26373374 [TBL] [Abstract][Full Text] [Related]
18. New insights into the pathogenicity of non-synonymous variants through multi-level analysis. Sun H; Yu G Sci Rep; 2019 Feb; 9(1):1667. PubMed ID: 30733553 [TBL] [Abstract][Full Text] [Related]
19. Sequence features in regions of weak and strong linkage disequilibrium. Smith AV; Thomas DJ; Munro HM; Abecasis GR Genome Res; 2005 Nov; 15(11):1519-34. PubMed ID: 16251462 [TBL] [Abstract][Full Text] [Related]
20. MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. Gosalia N; Economides AN; Dewey FE; Balasubramanian S Nucleic Acids Res; 2017 Oct; 45(18):10393-10402. PubMed ID: 28977528 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]