SCOPUS 정보 검색 플랫폼

JAMA - Journal of the American Medical Association

Volumn 317, Issue 18, 2017, Pages 1904-1905

Finding the rare pathogenic variants in a human genome

(3) Evans, James P a Powell, Bradford C a Berg, Jonathan S a

a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA SEQUENCE; FALSE POSITIVE RESULT; GENETIC DISORDER; GENETIC RISK; GENETIC VARIABILITY; GENETIC VARIATION; HUMAN; HUMAN GENOME; NEWBORN SCREENING; PREDICTIVE VALUE; PRIORITY JOURNAL; REVIEW; WHOLE GENOME SEQUENCING; COST BENEFIT ANALYSIS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MASS SCREENING; MUTATION; NORMAL HUMAN; PENETRANCE; PERSONALIZED MEDICINE; SINGLE NUCLEOTIDE POLYMORPHISM;

COST-BENEFIT ANALYSIS; GENETIC VARIATION; GENOME, HUMAN; GENOTYPE; HEALTHY VOLUNTEERS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MASS SCREENING; MUTATION; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRECISION MEDICINE;

EID: 85019496620 PISSN: 00987484 EISSN: 15383598 Source Type: Journal
DOI: 10.1001/jama.2017.0432 Document Type: Review

Times cited : (33)

References (8)

1
- 84984910831
- Defining the clinical value of a genomic diagnosis in the era of next-generation sequencing
- Strande NT, Berg JS. Defining the clinical value of a genomic diagnosis in the era of next-generation sequencing. Annu Rev Genomics Hum Genet. 2016; 17:303-332.
- (2016) Annu Rev Genomics Hum Genet. , vol.17 , pp. 303-332
- Strande, N.T.¹ Berg, J.S.²

2
- 84930526399
- ClinGen-The clinical genome resource
- ClinGen
- Rehm HL, Berg JS, Brooks LD, et al; ClinGen. ClinGen-the clinical genome resource. N Engl J Med. 2015;372(23):2235-2242.
- (2015) N Engl J Med. , vol.372 , Issue.23 , pp. 2235-2242
- Rehm, H.L.¹ Berg, J.S.² Brooks, L.D.³

3
- 84879411643
- Sequencing studies in human genetics: Design and interpretation
- Goldstein DB, Allen A, Keebler J, et al. Sequencing studies in human genetics: design and interpretation. Nat Rev Genet. 2013;14(7):460-470.
- (2013) Nat Rev Genet. , vol.14 , Issue.7 , pp. 460-470
- Goldstein, D.B.¹ Allen, A.² Keebler, J.³

4
- 84878841277
- How can polygenic inheritance be used in population screening for common diseases?
- KhouryMJ, Janssens AC, Ransohoff DF. How can polygenic inheritance be used in population screening for common diseases? Genet Med. 2013; 15(6):437-443.
- (2013) Genet Med. , vol.15 , Issue.6 , pp. 437-443
- Khoury, M.J.¹ Janssens, A.C.² Ransohoff, D.F.³

5
- 84946560128
- Crowdsourced direct-to-consumer genomic analysis of a family quartet
- Corpas M, Valdivia-GrandaW, Torres N, et al. Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics. 2015; 16:910-926.
- (2015) BMC Genomics. , vol.16 , pp. 910-926
- Corpas, M.¹ Valdivia-Granda, W.² Torres, N.³

6
- 84975076426
- The promise and peril of genomic screening in the general population
- Adams MC, Evans JP, Henderson GE, Berg JS. The promise and peril of genomic screening in the general population. Genet Med. 2016;18(6):593-599.
- (2016) Genet Med. , vol.18 , Issue.6 , pp. 593-599
- Adams, M.C.¹ Evans, J.P.² Henderson, G.E.³ Berg, J.S.⁴

7
- 33749066191
- Prediction of germline mutations and cancer risk in the Lynch syndrome
- Colon Cancer Family Registry
- Chen S,WangW, Lee S, et al; Colon Cancer Family Registry. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006;296(12):1479-1487.
- (2006) JAMA , vol.296 , Issue.12 , pp. 1479-1487
- Chen, S.¹ Wang, W.² Lee, S.³

8
- 84877253933
- We screen newborns, don't we?
- Evans JP, Berg JS, Olshan AF,Magnuson T, Rimer BK.We screen newborns, don't we? Genet Med. 2013;15(5):332-334.
- (2013) Genet Med. , vol.15 , Issue.5 , pp. 332-334
- Evans, J.P.¹ Berg, J.S.² Olshan, A.F.³ Magnuson, T.⁴ Rimer, B.K.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.