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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

119 related articles for article (PubMed ID: 28397312)

  • 1. Lessons from the CAGI-4 Hopkins clinical panel challenge.
    Chandonia JM; Adhikari A; Carraro M; Chhibber A; Cutting GR; Fu Y; Gasparini A; Jones DT; Kramer A; Kundu K; Lam HYK; Leonardi E; Moult J; Pal LR; Searls DB; Shah S; Sunyaev S; Tosatto SCE; Yin Y; Buckley BA
    Hum Mutat; 2017 Sep; 38(9):1155-1168. PubMed ID: 28397312
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
    Carraro M; Monzon AM; Chiricosta L; Reggiani F; Aspromonte MC; Bellini M; Pagel K; Jiang Y; Radivojac P; Kundu K; Pal LR; Yin Y; Limongelli I; Andreoletti G; Moult J; Wilson SJ; Katsonis P; Lichtarge O; Chen J; Wang Y; Hu Z; Brenner SE; Ferrari C; Murgia A; Tosatto SCE; Leonardi E
    Hum Mutat; 2019 Sep; 40(9):1330-1345. PubMed ID: 31144778
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Are machine learning based methods suited to address complex biological problems? Lessons from CAGI-5 challenges.
    Savojardo C; Babbi G; Bovo S; Capriotti E; Martelli PL; Casadio R
    Hum Mutat; 2019 Sep; 40(9):1455-1462. PubMed ID: 31066146
    [TBL] [Abstract][Full Text] [Related]  

  • 4. PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.
    Niroula A; Vihinen M
    Hum Mutat; 2017 Sep; 38(9):1085-1091. PubMed ID: 28224672
    [TBL] [Abstract][Full Text] [Related]  

  • 5. CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
    Kasak L; Hunter JM; Udani R; Bakolitsa C; Hu Z; Adhikari AN; Babbi G; Casadio R; Gough J; Guerrero RF; Jiang Y; Joseph T; Katsonis P; Kotte S; Kundu K; Lichtarge O; Martelli PL; Mooney SD; Moult J; Pal LR; Poitras J; Radivojac P; Rao A; Sivadasan N; Sunderam U; Saipradeep VG; Yin Y; Zaucha J; Brenner SE; Meyn MS
    Hum Mutat; 2019 Sep; 40(9):1373-1391. PubMed ID: 31322791
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5.
    Monzon AM; Carraro M; Chiricosta L; Reggiani F; Han J; Ozturk K; Wang Y; Miller M; Bromberg Y; Capriotti E; Savojardo C; Babbi G; Martelli PL; Casadio R; Katsonis P; Lichtarge O; Carter H; Kousi M; Katsanis N; Andreoletti G; Moult J; Brenner SE; Ferrari C; Leonardi E; Tosatto SCE
    Hum Mutat; 2019 Sep; 40(9):1474-1485. PubMed ID: 31260570
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.
    Kundu K; Pal LR; Yin Y; Moult J
    Hum Mutat; 2017 Sep; 38(9):1201-1216. PubMed ID: 28497567
    [TBL] [Abstract][Full Text] [Related]  

  • 8. CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation.
    Katsonis P; Lichtarge O
    Hum Mutat; 2019 Sep; 40(9):1436-1454. PubMed ID: 31317604
    [TBL] [Abstract][Full Text] [Related]  

  • 9. What went wrong with variant effect predictor performance for the PCM1 challenge.
    Miller M; Wang Y; Bromberg Y
    Hum Mutat; 2019 Sep; 40(9):1486-1494. PubMed ID: 31268618
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.
    Carraro M; Minervini G; Giollo M; Bromberg Y; Capriotti E; Casadio R; Dunbrack R; Elefanti L; Fariselli P; Ferrari C; Gough J; Katsonis P; Leonardi E; Lichtarge O; Menin C; Martelli PL; Niroula A; Pal LR; Repo S; Scaini MC; Vihinen M; Wei Q; Xu Q; Yang Y; Yin Y; Zaucha J; Zhao H; Zhou Y; Brenner SE; Moult J; Tosatto SCE
    Hum Mutat; 2017 Sep; 38(9):1042-1050. PubMed ID: 28440912
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation.
    Andreoletti G; Pal LR; Moult J; Brenner SE
    Hum Mutat; 2019 Sep; 40(9):1197-1201. PubMed ID: 31334884
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.
    Critical Assessment of Genome Interpretation Consortium
    Genome Biol; 2024 Feb; 25(1):53. PubMed ID: 38389099
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
    Daneshjou R; Wang Y; Bromberg Y; Bovo S; Martelli PL; Babbi G; Lena PD; Casadio R; Edwards M; Gifford D; Jones DT; Sundaram L; Bhat RR; Li X; Pal LR; Kundu K; Yin Y; Moult J; Jiang Y; Pejaver V; Pagel KA; Li B; Mooney SD; Radivojac P; Shah S; Carraro M; Gasparini A; Leonardi E; Giollo M; Ferrari C; Tosatto SCE; Bachar E; Azaria JR; Ofran Y; Unger R; Niroula A; Vihinen M; Chang B; Wang MH; Franke A; Petersen BS; Pirooznia M; Zandi P; McCombie R; Potash JB; Altman RB; Klein TE; Hoskins RA; Repo S; Brenner SE; Morgan AA
    Hum Mutat; 2017 Sep; 38(9):1182-1192. PubMed ID: 28634997
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
    Antoniadi T; Buxton C; Dennis G; Forrester N; Smith D; Lunt P; Burton-Jones S
    BMC Med Genet; 2015 Sep; 16():84. PubMed ID: 26392352
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
    Stenton SL; O'Leary M; Lemire G; VanNoy GE; DiTroia S; Ganesh VS; Groopman E; O'Heir E; Mangilog B; Osei-Owusu I; Pais LS; Serrano J; Singer-Berk M; Weisburd B; Wilson M; Austin-Tse C; Abdelhakim M; Althagafi A; Babbi G; Bellazzi R; Bovo S; Carta MG; Casadio R; Coenen PJ; De Paoli F; Floris M; Gajapathy M; Hoehndorf R; Jacobsen JOB; Joseph T; Kamandula A; Katsonis P; Kint C; Lichtarge O; Limongelli I; Lu Y; Magni P; Mamidi TKK; Martelli PL; Mulargia M; Nicora G; Nykamp K; Pejaver V; Peng Y; Pham THC; Podda MS; Rao A; Rizzo E; Saipradeep VG; Savojardo C; Schols P; Shen Y; Sivadasan N; Smedley D; Soru D; Srinivasan R; Sun Y; Sunderam U; Tan W; Tiwari N; Wang X; Wang Y; Williams A; Worthey EA; Yin R; You Y; Zeiberg D; Zucca S; Bakolitsa C; Brenner SE; Fullerton SM; Radivojac P; Rehm HL; O'Donnell-Luria A
    medRxiv; 2023 Aug; ():. PubMed ID: 37577678
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.
    Pejaver V; Mooney SD; Radivojac P
    Hum Mutat; 2017 Sep; 38(9):1092-1108. PubMed ID: 28508593
    [TBL] [Abstract][Full Text] [Related]  

  • 17. CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
    Aspromonte MC; Conte AD; Zhu S; Tan W; Shen Y; Zhang Y; Li Q; Wang MH; Babbi G; Bovo S; Martelli PL; Casadio R; Althagafi A; Toonsi S; Kulmanov M; Hoehndorf R; Katsonis P; Williams A; Lichtarge O; Xian S; Surento W; Pejaver V; Mooney SD; Sunderam U; Srinivasan R; Murgia A; Piovesan D; Tosatto SCE; Leonardi E
    Res Sq; 2023 Aug; ():. PubMed ID: 37577579
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Assessing predictions of the impact of variants on splicing in CAGI5.
    Mount SM; Avsec Ž; Carmel L; Casadio R; Çelik MH; Chen K; Cheng J; Cohen NE; Fairbrother WG; Fenesh T; Gagneur J; Gotea V; Holzer T; Lin CF; Martelli PL; Naito T; Nguyen TYD; Savojardo C; Unger R; Wang R; Yang Y; Zhao H
    Hum Mutat; 2019 Sep; 40(9):1215-1224. PubMed ID: 31301154
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges.
    Yin Y; Kundu K; Pal LR; Moult J
    Hum Mutat; 2017 Sep; 38(9):1109-1122. PubMed ID: 28544272
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Crohn disease risk prediction-Best practices and pitfalls with exome data.
    Giollo M; Jones DT; Carraro M; Leonardi E; Ferrari C; Tosatto SCE
    Hum Mutat; 2017 Sep; 38(9):1193-1200. PubMed ID: 28087895
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.