151 related articles for article (PubMed ID: 33960641)
1. Next-generation sequencing and the evolution of data sharing.
de Macena Sobreira NL; Hamosh A
Am J Med Genet A; 2021 Sep; 185(9):2633-2635. PubMed ID: 33960641
[TBL] [Abstract][Full Text] [Related]
2. PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
Wohler E; Martin R; Griffith S; Rodrigues EDS; Antonescu C; Posey JE; Coban-Akdemir Z; Jhangiani SN; Doheny KF; Lupski JR; Valle D; Hamosh A; Sobreira N
Orphanet J Rare Dis; 2021 Aug; 16(1):365. PubMed ID: 34407837
[TBL] [Abstract][Full Text] [Related]
3. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Sobreira N; Schiettecatte F; Valle D; Hamosh A
Hum Mutat; 2015 Oct; 36(10):928-30. PubMed ID: 26220891
[TBL] [Abstract][Full Text] [Related]
4. Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.
Azzariti DR; Hamosh A
Annu Rev Genomics Hum Genet; 2020 Aug; 21():305-326. PubMed ID: 32339034
[TBL] [Abstract][Full Text] [Related]
5. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.
Sobreira N; Schiettecatte F; Boehm C; Valle D; Hamosh A
Hum Mutat; 2015 Apr; 36(4):425-31. PubMed ID: 25684268
[TBL] [Abstract][Full Text] [Related]
6. Innovative genomic collaboration using the GENESIS (GEM.app) platform.
Gonzalez M; Falk MJ; Gai X; Postrel R; Schüle R; Zuchner S
Hum Mutat; 2015 Oct; 36(10):950-6. PubMed ID: 26173844
[TBL] [Abstract][Full Text] [Related]
7. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Fokkema IFAC; van der Velde KJ; Slofstra MK; Ruivenkamp CAL; Vogel MJ; Pfundt R; Blok MJ; Lekanne Deprez RH; Waisfisz Q; Abbott KM; Sinke RJ; Rahman R; Nijman IJ; de Koning B; Thijs G; Wieskamp N; Moritz RJG; Charbon B; Saris JJ; den Dunnen JT; Laros JFJ; Swertz MA; van Gijn ME
Hum Mutat; 2019 Dec; 40(12):2230-2238. PubMed ID: 31433103
[TBL] [Abstract][Full Text] [Related]
8. Phenogenon: Gene to phenotype associations for rare genetic diseases.
Pontikos N; Murphy C; Moghul I; Arno G; Fujinami K; Fujinami Y; Sumodhee D; Downes S; Webster A; Yu J;
PLoS One; 2020; 15(4):e0230587. PubMed ID: 32271766
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Insights into genetics, human biology and disease gleaned from family based genomic studies.
Posey JE; O'Donnell-Luria AH; Chong JX; Harel T; Jhangiani SN; Coban Akdemir ZH; Buyske S; Pehlivan D; Carvalho CMB; Baxter S; Sobreira N; Liu P; Wu N; Rosenfeld JA; Kumar S; Avramopoulos D; White JJ; Doheny KF; Witmer PD; Boehm C; Sutton VR; Muzny DM; Boerwinkle E; Günel M; Nickerson DA; Mane S; MacArthur DG; Gibbs RA; Hamosh A; Lifton RP; Matise TC; Rehm HL; Gerstein M; Bamshad MJ; Valle D; Lupski JR;
Genet Med; 2019 Apr; 21(4):798-812. PubMed ID: 30655598
[TBL] [Abstract][Full Text] [Related]
11. An automatic and efficient pipeline for disease gene identification through utilizing family-based sequencing data.
Song D; Li N; Liao L
Biomed Mater Eng; 2015; 26 Suppl 1():S1797-803. PubMed ID: 26405949
[TBL] [Abstract][Full Text] [Related]
12. [Diagnostics in human genetics : Integration of phenotypic and genomic data].
Köhler S; Robinson PN
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz; 2017 May; 60(5):542-549. PubMed ID: 28293716
[TBL] [Abstract][Full Text] [Related]
13. Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease.
Dand N; Schulz R; Weale ME; Southgate L; Oakey RJ; Simpson MA; Schlitt T
Hum Mutat; 2015 Dec; 36(12):1135-44. PubMed ID: 26394720
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
Swaminathan GJ; Bragin E; Chatzimichali EA; Corpas M; Bevan AP; Wright CF; Carter NP; Hurles ME; Firth HV
Hum Mol Genet; 2012 Oct; 21(R1):R37-44. PubMed ID: 22962312
[TBL] [Abstract][Full Text] [Related]
16. Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD; Shinde DN; Mroske C; Smith E; Radtke K; Shahmirzadi L; El-Khechen D; Powis Z; Chao EC; Alcaraz WA; Helbig KL; Sajan SA; Rossi M; Lu HM; Huether R; Li S; Wu S; Nuñes ME; Tang S
Genet Med; 2017 Feb; 19(2):224-235. PubMed ID: 27513193
[TBL] [Abstract][Full Text] [Related]
17. Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.
Karimi E; Mahmoudian F; Reyes SOL; Bargir UA; Madkaikar M; Artac H; Sabzevari A; Lu N; Azizi G; Abolhassani H
Mol Immunol; 2021 Sep; 137():57-66. PubMed ID: 34216999
[TBL] [Abstract][Full Text] [Related]
18. 100 Years of evolving gene-disease complexities and scientific debutants.
Zeeshan S; Xiong R; Liang BT; Ahmed Z
Brief Bioinform; 2020 May; 21(3):885-905. PubMed ID: 30972412
[TBL] [Abstract][Full Text] [Related]
19. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X; Petrovski S; Xie P; Ruzzo EK; Lu YF; McSweeney KM; Ben-Zeev B; Nissenkorn A; Anikster Y; Oz-Levi D; Dhindsa RS; Hitomi Y; Schoch K; Spillmann RC; Heimer G; Marek-Yagel D; Tzadok M; Han Y; Worley G; Goldstein J; Jiang YH; Lancet D; Pras E; Shashi V; McHale D; Need AC; Goldstein DB
Genet Med; 2015 Oct; 17(10):774-81. PubMed ID: 25590979
[TBL] [Abstract][Full Text] [Related]
20. How next-generation sequencing is transforming complex disease genetics.
Kilpinen H; Barrett JC
Trends Genet; 2013 Jan; 29(1):23-30. PubMed ID: 23103023
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]