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. Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-analysis of Noncoding Variation in Metabochip Data. He Z; Xu B; Lee S; Ionita-Laza I Am J Hum Genet; 2017 Sep; 101(3):340-352. PubMed ID: 28844485 [TBL] [Abstract][Full Text] [Related]
4. In Silico Functional Annotation of Genomic Variation. Butkiewicz M; Bush WS Curr Protoc Hum Genet; 2016 Jan; 88():6.15.1-6.15.17. PubMed ID: 26724722 [TBL] [Abstract][Full Text] [Related]
5. dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs. Liu X; Wu C; Li C; Boerwinkle E Hum Mutat; 2016 Mar; 37(3):235-41. PubMed ID: 26555599 [TBL] [Abstract][Full Text] [Related]
6. FunSPU: A versatile and adaptive multiple functional annotation-based association test of whole-genome sequencing data. Ma Y; Wei P PLoS Genet; 2019 Apr; 15(4):e1008081. PubMed ID: 31034468 [TBL] [Abstract][Full Text] [Related]
7. An integrative approach to predicting the functional effects of non-coding and coding sequence variation. Shihab HA; Rogers MF; Gough J; Mort M; Cooper DN; Day IN; Gaunt TR; Campbell C Bioinformatics; 2015 May; 31(10):1536-43. PubMed ID: 25583119 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders. Mutarelli M; Marwah V; Rispoli R; Carrella D; Dharmalingam G; Oliva G; di Bernardo D BMC Genomics; 2014; 15 Suppl 3(Suppl 3):S5. PubMed ID: 25078076 [TBL] [Abstract][Full Text] [Related]
10. Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. Gazal S; Loh PR; Finucane HK; Ganna A; Schoech A; Sunyaev S; Price AL Nat Genet; 2018 Nov; 50(11):1600-1607. PubMed ID: 30297966 [TBL] [Abstract][Full Text] [Related]
11. VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases. Huang D; Zhou Y; Yi X; Fan X; Wang J; Yao H; Sham PC; Hao J; Chen K; Li MJ Nucleic Acids Res; 2022 Jan; 50(D1):D1408-D1416. PubMed ID: 34570217 [TBL] [Abstract][Full Text] [Related]
12. Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score. Bocher O; Ludwig TE; Oglobinsky MS; Marenne G; Deleuze JF; Suryakant S; Odeberg J; Morange PE; Trégouët DA; Perdry H; Génin E PLoS Genet; 2022 Sep; 18(9):e1009923. PubMed ID: 36112662 [TBL] [Abstract][Full Text] [Related]
13. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Zheng HF; Forgetta V; Hsu YH; Estrada K; Rosello-Diez A; Leo PJ; Dahia CL; Park-Min KH; Tobias JH; Kooperberg C; Kleinman A; Styrkarsdottir U; Liu CT; Uggla C; Evans DS; Nielson CM; Walter K; Pettersson-Kymmer U; McCarthy S; Eriksson J; Kwan T; Jhamai M; Trajanoska K; Memari Y; Min J; Huang J; Danecek P; Wilmot B; Li R; Chou WC; Mokry LE; Moayyeri A; Claussnitzer M; Cheng CH; Cheung W; Medina-Gómez C; Ge B; Chen SH; Choi K; Oei L; Fraser J; Kraaij R; Hibbs MA; Gregson CL; Paquette D; Hofman A; Wibom C; Tranah GJ; Marshall M; Gardiner BB; Cremin K; Auer P; Hsu L; Ring S; Tung JY; Thorleifsson G; Enneman AW; van Schoor NM; de Groot LC; van der Velde N; Melin B; Kemp JP; Christiansen C; Sayers A; Zhou Y; Calderari S; van Rooij J; Carlson C; Peters U; Berlivet S; Dostie J; Uitterlinden AG; Williams SR; Farber C; Grinberg D; LaCroix AZ; Haessler J; Chasman DI; Giulianini F; Rose LM; Ridker PM; Eisman JA; Nguyen TV; Center JR; Nogues X; Garcia-Giralt N; Launer LL; Gudnason V; Mellström D; Vandenput L; Amin N; van Duijn CM; Karlsson MK; Ljunggren Ö; Svensson O; Hallmans G; Rousseau F; Giroux S; Bussière J; Arp PP; Koromani F; Prince RL; Lewis JR; Langdahl BL; Hermann AP; Jensen JE; Kaptoge S; Khaw KT; Reeve J; Formosa MM; Xuereb-Anastasi A; Åkesson K; McGuigan FE; Garg G; Olmos JM; Zarrabeitia MT; Riancho JA; Ralston SH; Alonso N; Jiang X; Goltzman D; Pastinen T; Grundberg E; Gauguier D; Orwoll ES; Karasik D; Davey-Smith G; ; Smith AV; Siggeirsdottir K; Harris TB; Zillikens MC; van Meurs JB; Thorsteinsdottir U; Maurano MT; Timpson NJ; Soranzo N; Durbin R; Wilson SG; Ntzani EE; Brown MA; Stefansson K; Hinds DA; Spector T; Cupples LA; Ohlsson C; Greenwood CM; ; Jackson RD; Rowe DW; Loomis CA; Evans DM; Ackert-Bicknell CL; Joyner AL; Duncan EL; Kiel DP; Rivadeneira F; Richards JB Nature; 2015 Oct; 526(7571):112-7. PubMed ID: 26367794 [TBL] [Abstract][Full Text] [Related]
14. Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis. Sayyab S; Viluma A; Bergvall K; Brunberg E; Jagannathan V; Leeb T; Andersson G; Bergström TF G3 (Bethesda); 2016 Jan; 6(3):521-7. PubMed ID: 26747202 [TBL] [Abstract][Full Text] [Related]
15. Identification of causal sequence variants of disease in the next generation sequencing era. Kingsley CB Methods Mol Biol; 2011; 700():37-46. PubMed ID: 21204025 [TBL] [Abstract][Full Text] [Related]