182 related articles for article (PubMed ID: 22411407)
1. Exome and whole-genome sequencing for gene discovery: the future is now!
Majewski J; Rosenblatt DS
Hum Mutat; 2012 Apr; 33(4):591-2. PubMed ID: 22411407
[No Abstract] [Full Text] [Related]
2. Next generation sequencing: the technology we need in pediatric laboratories?
Couderc R; Jonard L; Louha M
Clin Biochem; 2011 May; 44(7):514-515. PubMed ID: 22036354
[No Abstract] [Full Text] [Related]
3. Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
Hegde M; Santani A; Mao R; Ferreira-Gonzalez A; Weck KE; Voelkerding KV
Arch Pathol Lab Med; 2017 Jun; 141(6):798-805. PubMed ID: 28362156
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Whole-exome sequencing emerges as clinical diagnostic tool: testing method proves useful for diagnosing wide range of genetic disorders.
Levenson D
Am J Med Genet A; 2014 Jan; 164A(1):ix-x. PubMed ID: 24352919
[No Abstract] [Full Text] [Related]
6. Analysis of DNA sequence variants detected by high-throughput sequencing.
Adams DR; Sincan M; Fuentes Fajardo K; Mullikin JC; Pierson TM; Toro C; Boerkoel CF; Tifft CJ; Gahl WA; Markello TC
Hum Mutat; 2012 Apr; 33(4):599-608. PubMed ID: 22290882
[TBL] [Abstract][Full Text] [Related]
7. Whole-exome sequencing effective at diagnosing elusive genetic disorders: tests diagnose about 25% of patients, find a variety of mutation types.
Levenson D
Am J Med Genet A; 2015 Feb; 167A(2):vii-viii. PubMed ID: 25604662
[No Abstract] [Full Text] [Related]
8. The Rise and Rise of Exome Sequencing.
Ku CS; Cooper DN; Patrinos GP
Public Health Genomics; 2016; 19(6):315-324. PubMed ID: 27898412
[TBL] [Abstract][Full Text] [Related]
9. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K; Feenstra I; Gilissen C; Hoefsloot LH; Kamsteeg EJ; Mensenkamp AR; Rodenburg RJ; Yntema HG; Spruijt L; Vermeer S; Rinne T; van Gassen KL; Bodmer D; Lugtenberg D; de Reuver R; Buijsman W; Derks RC; Wieskamp N; van den Heuvel B; Ligtenberg MJ; Kremer H; Koolen DA; van de Warrenburg BP; Cremers FP; Marcelis CL; Smeitink JA; Wortmann SB; van Zelst-Stams WA; Veltman JA; Brunner HG; Scheffer H; Nelen MR
Hum Mutat; 2013 Dec; 34(12):1721-6. PubMed ID: 24123792
[TBL] [Abstract][Full Text] [Related]
10. Diagnostic clinical genome and exome sequencing.
Biesecker LG; Green RC
N Engl J Med; 2014 Jun; 370(25):2418-25. PubMed ID: 24941179
[No Abstract] [Full Text] [Related]
11. Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing.
Liu Q; Shen E; Min Q; Li X; Wang X; Li X; Sun ZS; Wu J
BMC Genomics; 2012 Dec; 13():692. PubMed ID: 23231371
[TBL] [Abstract][Full Text] [Related]
12. Phenotype-Based Criteria Increases Diagnostic Impact of Exome Sequencing in Neonates.
Am J Med Genet A; 2020 Mar; 182(3):422-423. PubMed ID: 32052580
[No Abstract] [Full Text] [Related]
13. [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]
14. Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.
McInerney-Leo AM; Duncan EL
Front Endocrinol (Lausanne); 2020; 11():628946. PubMed ID: 33679611
[TBL] [Abstract][Full Text] [Related]
15. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
Dias C; Sincan M; Cherukuri PF; Rupps R; Huang Y; Briemberg H; Selby K; Mullikin JC; Markello TC; Adams DR; Gahl WA; Boerkoel CF
Hum Mutat; 2012 Apr; 33(4):614-26. PubMed ID: 22311686
[TBL] [Abstract][Full Text] [Related]
16. From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.
Laurie S; Fernandez-Callejo M; Marco-Sola S; Trotta JR; Camps J; Chacón A; Espinosa A; Gut M; Gut I; Heath S; Beltran S
Hum Mutat; 2016 Dec; 37(12):1263-1271. PubMed ID: 27604516
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL; Hartley T; Dyment DA; Beaulieu CL; Schwartzentruber J; Smith A; Bedford HM; Bernard G; Bernier FP; Brais B; Bulman DE; Warman Chardon J; Chitayat D; Deladoëy J; Fernandez BA; Frosk P; Geraghty MT; Gerull B; Gibson W; Gow RM; Graham GE; Green JS; Heon E; Horvath G; Innes AM; Jabado N; Kim RH; Koenekoop RK; Khan A; Lehmann OJ; Mendoza-Londono R; Michaud JL; Nikkel SM; Penney LS; Polychronakos C; Richer J; Rouleau GA; Samuels ME; Siu VM; Suchowersky O; Tarnopolsky MA; Yoon G; Zahir FR; ; ; Majewski J; Boycott KM
Clin Genet; 2016 Mar; 89(3):275-84. PubMed ID: 26283276
[TBL] [Abstract][Full Text] [Related]
19. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
Kernohan KD; Hartley T; Naumenko S; Armour CM; Graham GE; Nikkel SM; Lines M; Geraghty MT; Richer J; Mears W; Boycott KM; Dyment DA
Am J Med Genet A; 2018 Jul; 176(7):1688-1691. PubMed ID: 30160830
[No Abstract] [Full Text] [Related]
20. Genetic diagnosis through whole-exome sequencing.
Jacob HJ
N Engl J Med; 2014 Mar; 370(11):1069. PubMed ID: 24627900
[No Abstract] [Full Text] [Related]
[Next] [New Search]
