-
1
-
-
84878799611
-
Predicting functional effect of human missense mutations using PolyPhen-2
-
(Chapter 7: Unit7 20)
-
Adzhubei I., Jordan D.M., Sunyaev S.R. Predicting functional effect of human missense mutations using PolyPhen-2. Curr. Protoc. Hum. Genet. 2013, (Chapter 7: Unit7 20).
-
(2013)
Curr. Protoc. Hum. Genet.
-
-
Adzhubei, I.1
Jordan, D.M.2
Sunyaev, S.R.3
-
2
-
-
84923872701
-
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
-
Amendola L.M., Dorschner M.O., Robertson P.D., Salama J.S., Hart R., Shirts B.H., et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015, 25(3):305-315.
-
(2015)
Genome Res.
, vol.25
, Issue.3
, pp. 305-315
-
-
Amendola, L.M.1
Dorschner, M.O.2
Robertson, P.D.3
Salama, J.S.4
Hart, R.5
Shirts, B.H.6
-
3
-
-
84921874544
-
Management and return of incidental genomic findings in clinical trials
-
Ayuso C., Millan J.M., Dal-Re R. Management and return of incidental genomic findings in clinical trials. Pharmacogenomics J. 2015, 15(1):1-5.
-
(2015)
Pharmacogenomics J.
, vol.15
, Issue.1
, pp. 1-5
-
-
Ayuso, C.1
Millan, J.M.2
Dal-Re, R.3
-
4
-
-
84959072560
-
Surveillance recommendations for patients with germline TP53 mutations
-
Ballinger M.L., Mitchell G., Thomas D.M. Surveillance recommendations for patients with germline TP53 mutations. Curr. Opin. Oncol. 2015, 27(4):332-337.
-
(2015)
Curr. Opin. Oncol.
, vol.27
, Issue.4
, pp. 332-337
-
-
Ballinger, M.L.1
Mitchell, G.2
Thomas, D.M.3
-
5
-
-
79959276553
-
Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time
-
Berg J.S., Khoury M.J., Evans J.P. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet. Med. 2011, 13(6):499-504.
-
(2011)
Genet. Med.
, vol.13
, Issue.6
, pp. 499-504
-
-
Berg, J.S.1
Khoury, M.J.2
Evans, J.P.3
-
6
-
-
84887439425
-
Recommendations for returning genomic incidental findings? We need to talk!
-
Burke W., Antommaria A.H., Bennett R., Botkin J., Clayton E.W., Henderson G.E., et al. Recommendations for returning genomic incidental findings? We need to talk!. Genet. Med. 2013, 15(11):854-859.
-
(2013)
Genet. Med.
, vol.15
, Issue.11
, pp. 854-859
-
-
Burke, W.1
Antommaria, A.H.2
Bennett, R.3
Botkin, J.4
Clayton, E.W.5
Henderson, G.E.6
-
7
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo M.A., Banks E., Poplin R., Garimella K.V., Maguire J.R., Hartl C., et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 2011, 43(5):491-498.
-
(2011)
Nat. Genet.
, vol.43
, Issue.5
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
-
8
-
-
84885295208
-
Actionable, pathogenic incidental findings in 1000 participants' exomes
-
Dorschner M.O., Amendola L.M., Turner E.H., Robertson P.D., Shirts B.H., Gallego C.J., et al. Actionable, pathogenic incidental findings in 1000 participants' exomes. Am. J. Hum. Genet. 2013, 93(4):631-640.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, Issue.4
, pp. 631-640
-
-
Dorschner, M.O.1
Amendola, L.M.2
Turner, E.H.3
Robertson, P.D.4
Shirts, B.H.5
Gallego, C.J.6
-
9
-
-
17344365851
-
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium
-
Ford D., Easton D.F., Stratton M., Narod S., Goldgar D., Devilee P., et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am. J. Hum. Genet. 1998, 62(3):676-689.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, Issue.3
, pp. 676-689
-
-
Ford, D.1
Easton, D.F.2
Stratton, M.3
Narod, S.4
Goldgar, D.5
Devilee, P.6
-
10
-
-
84859577332
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing
-
Green R.C., Berg J.S., Berry G.T., Biesecker L.G., Dimmock D.P., Evans J.P., et al. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet. Med. 2012, 14(4):405-410.
-
(2012)
Genet. Med.
, vol.14
, Issue.4
, pp. 405-410
-
-
Green, R.C.1
Berg, J.S.2
Berry, G.T.3
Biesecker, L.G.4
Dimmock, D.P.5
Evans, J.P.6
-
11
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green R.C., Berg J.S., Grody W.W., Kalia S.S., Korf B.R., Martin C.L., et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 2013, 15(7):565-574.
-
(2013)
Genet. Med.
, vol.15
, Issue.7
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
Kalia, S.S.4
Korf, B.R.5
Martin, C.L.6
-
12
-
-
79959457808
-
Testing of VKORC1 and CYP2C9 alleles to guide warfarin dosing. Test category: pharmacogenomic (treatment)
-
Grossniklaus D. Testing of VKORC1 and CYP2C9 alleles to guide warfarin dosing. Test category: pharmacogenomic (treatment). PLoS Curr. 2010, 2.
-
(2010)
PLoS Curr.
, vol.2
-
-
Grossniklaus, D.1
-
13
-
-
84922607919
-
Reporting incidental findings in genomic scale clinical sequencing - a clinical laboratory perspective: a report of the Association for Molecular Pathology
-
Hegde M., Bale S., Bayrak-Toydemir P., Gibson J., Jeng L.J., Joseph L., et al. Reporting incidental findings in genomic scale clinical sequencing - a clinical laboratory perspective: a report of the Association for Molecular Pathology. J. Mol. Diagn. 2015, 17(2):107-117.
-
(2015)
J. Mol. Diagn.
, vol.17
, Issue.2
, pp. 107-117
-
-
Hegde, M.1
Bale, S.2
Bayrak-Toydemir, P.3
Gibson, J.4
Jeng, L.J.5
Joseph, L.6
-
14
-
-
84949237792
-
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes
-
Jang M.A., Lee S.H., Kim N., Ki C.S. Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. Genet. Med. 2015, 17(12):1007-1011.
-
(2015)
Genet. Med.
, vol.17
, Issue.12
, pp. 1007-1011
-
-
Jang, M.A.1
Lee, S.H.2
Kim, N.3
Ki, C.S.4
-
15
-
-
84939157303
-
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
-
Jurgens J., Ling H., Hetrick K., Pugh E., Schiettecatte F., Doheny K., et al. Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet. Med. 2015, 17(10):782-788.
-
(2015)
Genet. Med.
, vol.17
, Issue.10
, pp. 782-788
-
-
Jurgens, J.1
Ling, H.2
Hetrick, K.3
Pugh, E.4
Schiettecatte, F.5
Doheny, K.6
-
16
-
-
84902212511
-
Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases
-
Kleiderman E., Knoppers B.M., Fernandez C.V., Boycott K.M., Ouellette G., Wong-Rieger D., et al. Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases. J. Med. Ethics 2014, 40(10):691-696.
-
(2014)
J. Med. Ethics
, vol.40
, Issue.10
, pp. 691-696
-
-
Kleiderman, E.1
Knoppers, B.M.2
Fernandez, C.V.3
Boycott, K.M.4
Ouellette, G.5
Wong-Rieger, D.6
-
17
-
-
84874116144
-
Population studies: return of research results and incidental findings policy statement
-
Knoppers B.M., Deschenes M., Zawati M.H., Tasse A.M. Population studies: return of research results and incidental findings policy statement. Eur. J. Hum. Genet. 2013, 21(3):245-247.
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, Issue.3
, pp. 245-247
-
-
Knoppers, B.M.1
Deschenes, M.2
Zawati, M.H.3
Tasse, A.M.4
-
18
-
-
84878787520
-
Management of incidental findings in clinical genomic sequencing
-
(Chapter 9: Unit9 23)
-
Krier J.B., Green R.C. Management of incidental findings in clinical genomic sequencing. Curr. Protoc. Hum. Genet. 2013, (Chapter 9: Unit9 23).
-
(2013)
Curr. Protoc. Hum. Genet.
-
-
Krier, J.B.1
Green, R.C.2
-
19
-
-
84988532388
-
Management of Incidental Findings in Clinical Genomic Sequencing
-
(9 23 1-9 16)
-
Krier J.B., Green R.C. Management of Incidental Findings in Clinical Genomic Sequencing. Curr. Protoc. Hum. Genet. 2015, 87. (9 23 1-9 16).
-
(2015)
Curr. Protoc. Hum. Genet.
, vol.87
-
-
Krier, J.B.1
Green, R.C.2
-
20
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander E.S., Linton L.M., Birren B., Nusbaum C., Zody M.C., Baldwin J., et al. Initial sequencing and analysis of the human genome. Nature 2001, 409(6822):860-921.
-
(2001)
Nature
, vol.409
, Issue.6822
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
-
21
-
-
84991491933
-
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
-
Lawrence L., Sincan M., Markello T., Adams D.R., Gill F., Godfrey R., et al. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet. Med. 2014, 16(10):741-750.
-
(2014)
Genet. Med.
, vol.16
, Issue.10
, pp. 741-750
-
-
Lawrence, L.1
Sincan, M.2
Markello, T.3
Adams, D.R.4
Gill, F.5
Godfrey, R.6
-
22
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H., Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009, 25(14):1754-1760.
-
(2009)
Bioinformatics
, vol.25
, Issue.14
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
23
-
-
0035880897
-
Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer
-
Loman N., Johannsson O., Kristoffersson U., Olsson H., Borg A. Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J. Natl. Cancer Inst. 2001, 93(16):1215-1223.
-
(2001)
J. Natl. Cancer Inst.
, vol.93
, Issue.16
, pp. 1215-1223
-
-
Loman, N.1
Johannsson, O.2
Kristoffersson, U.3
Olsson, H.4
Borg, A.5
-
24
-
-
80054687808
-
Contemporary management of vascular Ehlers-Danlos syndrome
-
Lum Y.W., Brooke B.S., Black J.H. Contemporary management of vascular Ehlers-Danlos syndrome. Curr. Opin. Cardiol. 2011, 26(6):494-501.
-
(2011)
Curr. Opin. Cardiol.
, vol.26
, Issue.6
, pp. 494-501
-
-
Lum, Y.W.1
Brooke, B.S.2
Black, J.H.3
-
25
-
-
84875939245
-
Implementing genomic medicine in the clinic: the future is here
-
Manolio T.A., Chisholm R.L., Ozenberger B., Roden D.M., Williams M.S., Wilson R., et al. Implementing genomic medicine in the clinic: the future is here. Genet. Med. 2013, 15(4):258-267.
-
(2013)
Genet. Med.
, vol.15
, Issue.4
, pp. 258-267
-
-
Manolio, T.A.1
Chisholm, R.L.2
Ozenberger, B.3
Roden, D.M.4
Williams, M.S.5
Wilson, R.6
-
26
-
-
84930433702
-
Global implementation of genomic medicine: we are not alone
-
290ps13
-
Manolio T.A., Abramowicz M., Al-Mulla F., Anderson W., Balling R., Berger A.C., et al. Global implementation of genomic medicine: we are not alone. Sci. Transl. Med. 2015, 7(290):290ps13.
-
(2015)
Sci. Transl. Med.
, vol.7
, Issue.290
-
-
Manolio, T.A.1
Abramowicz, M.2
Al-Mulla, F.3
Anderson, W.4
Balling, R.5
Berger, A.C.6
-
27
-
-
79952193435
-
A timely arrival for genomic medicine
-
Mayer A.N., Dimmock D.P., Arca M.J., Bick D.P., Verbsky J.W., Worthey E.A., et al. A timely arrival for genomic medicine. Genet. Med. 2011, 13(3):195-196.
-
(2011)
Genet. Med.
, vol.13
, Issue.3
, pp. 195-196
-
-
Mayer, A.N.1
Dimmock, D.P.2
Arca, M.J.3
Bick, D.P.4
Verbsky, J.W.5
Worthey, E.A.6
-
28
-
-
84923928478
-
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
-
McLaughlin H.M., Ceyhan-Birsoy O., Christensen K.D., Kohane I.S., Krier J., Lane W.J., et al. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med. Genet. 2014, 15:134.
-
(2014)
BMC Med. Genet.
, vol.15
, pp. 134
-
-
McLaughlin, H.M.1
Ceyhan-Birsoy, O.2
Christensen, K.D.3
Kohane, I.S.4
Krier, J.5
Lane, W.J.6
-
29
-
-
0043122919
-
SIFT: predicting amino acid changes that affect protein function
-
Ng P.C., Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003, 31(13):3812-3814.
-
(2003)
Nucleic Acids Res.
, vol.31
, Issue.13
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
31
-
-
84889856570
-
HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013
-
Priori S.G., Wilde A.A., Horie M., Cho Y., Behr E.R., Berul C., et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm. 2013, 10(12):1932-1963.
-
(2013)
Heart Rhythm.
, vol.10
, Issue.12
, pp. 1932-1963
-
-
Priori, S.G.1
Wilde, A.A.2
Horie, M.3
Cho, Y.4
Behr, E.R.5
Berul, C.6
-
32
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015, 17(5):405-423.
-
(2015)
Genet. Med.
, vol.17
, Issue.5
, pp. 405-423
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
Bick, D.4
Das, S.5
Gastier-Foster, J.6
-
33
-
-
85016918022
-
Incidental findings with genomic testing: implications for genetic counseling practice
-
Roche M.I., Berg J.S. Incidental findings with genomic testing: implications for genetic counseling practice. Curr. Genet. Med. Rep. 2015, 3(4):166-176.
-
(2015)
Curr. Genet. Med. Rep.
, vol.3
, Issue.4
, pp. 166-176
-
-
Roche, M.I.1
Berg, J.S.2
-
34
-
-
84897456458
-
MutationTaster2: mutation prediction for the deep-sequencing age
-
Schwarz J.M., Cooper D.N., Schuelke M., Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat. Methods 2014, 11(4):361-362.
-
(2014)
Nat. Methods
, vol.11
, Issue.4
, pp. 361-362
-
-
Schwarz, J.M.1
Cooper, D.N.2
Schuelke, M.3
Seelow, D.4
-
35
-
-
84933279272
-
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
-
Taylor J.C., Martin H.C., Lise S., Broxholme J., Cazier J.B., Rimmer A., et al. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat. Genet. 2015, 47(7):717-726.
-
(2015)
Nat. Genet.
, vol.47
, Issue.7
, pp. 717-726
-
-
Taylor, J.C.1
Martin, H.C.2
Lise, S.3
Broxholme, J.4
Cazier, J.B.5
Rimmer, A.6
-
36
-
-
84881420673
-
Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics
-
van El C.G., Cornel M.C., Borry P., Hastings R.J., Fellmann F., Hodgson S.V., et al. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur. J. Hum. Genet. 2013, 21(Suppl. 1):S1-S5.
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, pp. S1-S5
-
-
van El, C.G.1
Cornel, M.C.2
Borry, P.3
Hastings, R.J.4
Fellmann, F.5
Hodgson, S.V.6
-
37
-
-
0035895505
-
The sequence of the human genome
-
Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., et al. The sequence of the human genome. Science 2001, 291(5507):1304-1351.
-
(2001)
Science
, vol.291
, Issue.5507
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
Li, P.W.4
Mural, R.J.5
Sutton, G.G.6
-
38
-
-
4544230001
-
Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination
-
Warner E., Plewes D.B., Hill K.A., Causer P.A., Zubovits J.T., Jong R.A., et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. J. Am. Med. Assoc. 2004, 292(11):1317-1325.
-
(2004)
J. Am. Med. Assoc.
, vol.292
, Issue.11
, pp. 1317-1325
-
-
Warner, E.1
Plewes, D.B.2
Hill, K.A.3
Causer, P.A.4
Zubovits, J.T.5
Jong, R.A.6
-
39
-
-
84859566974
-
Managing incidental findings and research results in genomic research involving biobanks and archived data sets
-
Wolf S.M., Crock B.N., Van Ness B., Lawrenz F., Kahn J.P., Beskow L.M., et al. Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet. Med. 2012, 14(4):361-384.
-
(2012)
Genet. Med.
, vol.14
, Issue.4
, pp. 361-384
-
-
Wolf, S.M.1
Crock, B.N.2
Van Ness, B.3
Lawrenz, F.4
Kahn, J.P.5
Beskow, L.M.6
-
40
-
-
84872333179
-
Deep whole-genome sequencing of 100 Southeast Asian Malays
-
Wong L.P., Ong R.T., Poh W.T., Liu X., Chen P., Li R., et al. Deep whole-genome sequencing of 100 Southeast Asian Malays. Am. J. Hum. Genet. 2013, 92(1):52-66.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, Issue.1
, pp. 52-66
-
-
Wong, L.P.1
Ong, R.T.2
Poh, W.T.3
Liu, X.4
Chen, P.5
Li, R.6
-
41
-
-
84901640306
-
Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing
-
Wong L.P., Lai J.K., Saw W.Y., Ong R.T., Cheng A.Y., Pillai N.E., et al. Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing. PLoS Genet. 2014, 10(5):e1004377.
-
(2014)
PLoS Genet.
, vol.10
, Issue.5
, pp. e1004377
-
-
Wong, L.P.1
Lai, J.K.2
Saw, W.Y.3
Ong, R.T.4
Cheng, A.Y.5
Pillai, N.E.6
-
42
-
-
84905915073
-
Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing
-
Yu J.H., Crouch J., Jamal S.M., Bamshad M.J., Tabor H.K. Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing. Am. J. Med. Genet. A 2014, 164A(9):2153-2160.
-
(2014)
Am. J. Med. Genet. A
, vol.164A
, Issue.9
, pp. 2153-2160
-
-
Yu, J.H.1
Crouch, J.2
Jamal, S.M.3
Bamshad, M.J.4
Tabor, H.K.5
-
43
-
-
84904034852
-
Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing
-
Yu J.H., Harrell T.M., Jamal S.M., Tabor H.K., Bamshad M.J. Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. Am. J. Hum. Genet. 2014, 95(1):77-84.
-
(2014)
Am. J. Hum. Genet.
, vol.95
, Issue.1
, pp. 77-84
-
-
Yu, J.H.1
Harrell, T.M.2
Jamal, S.M.3
Tabor, H.K.4
Bamshad, M.J.5
|