-
1
-
-
84943171338
-
A global reference for human genetic variation
-
1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 2015. A global reference for human genetic variation. Nature 526:68–74.
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
Auton, A.1
Brooks, L.D.2
Durbin, R.M.3
Garrison, E.P.4
Kang, H.M.5
Korbel, J.O.6
Marchini, J.L.7
McCarthy, S.8
McVean, G.A.9
Abecasis, G.R.10
-
2
-
-
84920528362
-
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing
-
ACMG Board of Directors. 2015. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med 17:68–69.
-
(2015)
Genet Med
, vol.17
, pp. 68-69
-
-
-
3
-
-
84878799611
-
Predicting functional effect of human missense mutations using PolyPhen-2
-
Chapter 7 Unit7.20
-
Adzhubei I, Jordan DM, Sunyaev SR. 2013. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet Chapter 7: Unit7.20.
-
(2013)
Curr Protoc Hum Genet
-
-
Adzhubei, I.1
Jordan, D.M.2
Sunyaev, S.R.3
-
4
-
-
84923872701
-
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
-
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, et al. 2015. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res 25:305–315.
-
(2015)
Genome Res
, vol.25
, 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
Murray, M.L.7
Tokita, M.J.8
Gallego, C.J.9
Kim, D.S.10
Bennett, J.T.11
Crosslin, D.R.12
-
5
-
-
84881347061
-
Incidental findings in clinical genomics: a clarification
-
American College of Medical Genetics and Genomics. 2013. Incidental findings in clinical genomics: a clarification. Genet Med 15:664–666.
-
(2013)
Genet Med
, vol.15
, pp. 664-666
-
-
-
6
-
-
6444221054
-
The right not to know: an autonomy based approach
-
discussion 439–440
-
Andorno R. 2004. The right not to know: an autonomy based approach. J Med Ethics 30:435–439; discussion 439–440.
-
(2004)
J Med Ethics
, vol.30
, pp. 435-439
-
-
Andorno, R.1
-
7
-
-
84960901980
-
Gene variant databases and sharing: creating a global genomic variant database for personalized medicine
-
Bean LJH, Hegde MR. 2016. Gene variant databases and sharing: creating a global genomic variant database for personalized medicine. Hum Mutat 37:559–563.
-
(2016)
Hum Mutat
, vol.37
, pp. 559-563
-
-
Bean, L.J.H.1
Hegde, M.R.2
-
8
-
-
24344433102
-
UMD (Universal Mutation Database): 2005 update
-
Béroud C, Hamroun D, Collod-Beroud G, Boileau C, Soussi T, Claustres M. 2005. UMD (Universal Mutation Database): 2005 update. Hum Mutat 26:184–191.
-
(2005)
Hum Mutat
, vol.26
, pp. 184-191
-
-
Béroud, C.1
Hamroun, D.2
Collod-Beroud, G.3
Boileau, C.4
Soussi, T.5
Claustres, M.6
-
9
-
-
84989225599
-
BRCA Share: A Collection of Clinical BRCA Gene Variants
-
Beroud C, Letovsky SI, et al. 2016. BRCA Share: A Collection of Clinical BRCA Gene Variants. Hum Mutat 37.
-
(2016)
Hum Mutat
, vol.37
-
-
Beroud, C.1
Letovsky, S.I.2
-
10
-
-
84877292144
-
Incidental variants are critical for genomics
-
Biesecker LG. 2013. Incidental variants are critical for genomics. Am J Hum Genet 92:648–651.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 648-651
-
-
Biesecker, L.G.1
-
11
-
-
84887439425
-
Recommendations for returning genomic incidental findings?
-
We need to talk
-
Burke W, Antommaria AHM, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, et al. 2013. Recommendations for returning genomic incidental findings? We need to talk! Genet Med 15:854–859.
-
(2013)
Genet Med
, vol.15
, pp. 854-859
-
-
Burke, W.1
Antommaria, A.H.M.2
Bennett, R.3
Botkin, J.4
Clayton, E.W.5
Henderson, G.E.6
Holm, I.A.7
Jarvik, G.P.8
Khoury, M.J.9
Knoppers, B.M.10
Press, N.A.11
Ross, L.F.12
-
12
-
-
84867301515
-
Predicting the functional effect of amino acid substitutions and indels
-
Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. 2012. Predicting the functional effect of amino acid substitutions and indels. PLoS ONE 7:e46688.
-
(2012)
PLoS ONE
, vol.7
-
-
Choi, Y.1
Sims, G.E.2
Murphy, S.3
Miller, J.R.4
Chan, A.P.5
-
13
-
-
84887627966
-
Secondary variants–in defense of a more fitting term in the incidental findings debate
-
Christenhusz GM, Devriendt K, Dierickx K. 2013. Secondary variants–in defense of a more fitting term in the incidental findings debate. Eur J Hum Genet 21:1331–1334.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 1331-1334
-
-
Christenhusz, G.M.1
Devriendt, K.2
Dierickx, K.3
-
14
-
-
84878119323
-
Managing incidental genomic findings: legal obligations of clinicians
-
Clayton EW, Haga S, Kuszler P, Bane E, Shutske K, Burke W. 2013. Managing incidental genomic findings: legal obligations of clinicians. Genet Med 15:624–629.
-
(2013)
Genet Med
, vol.15
, pp. 624-629
-
-
Clayton, E.W.1
Haga, S.2
Kuszler, P.3
Bane, E.4
Shutske, K.5
Burke, W.6
-
15
-
-
84960856316
-
LSDBs and how they have evolved
-
Dalgleish R. 2016. LSDBs and how they have evolved. Hum Mutat 37:532–539.
-
(2016)
Hum Mutat
, vol.37
, pp. 532-539
-
-
Dalgleish, R.1
-
16
-
-
66249120367
-
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
-
Desmet F-O, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Béroud C. 2009. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Desmet, F.-O.1
Hamroun, D.2
Lalande, M.3
Collod-Beroud, G.4
Claustres, M.5
Béroud, C.6
-
17
-
-
84885295208
-
Actionable, pathogenic incidental findings in 1,000 participants' exomes
-
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, et al. 2013. Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet 93:631–640.
-
(2013)
Am J Hum Genet
, vol.93
, 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
Bennett, R.L.7
Jones, K.L.8
Tokita, M.J.9
Bennett, J.T.10
Kim, J.H.11
Rosenthal, E.A.12
-
18
-
-
84957696486
-
Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review
-
Douglas MP, Ladabaum U, Pletcher MJ, Marshall DA, Phillips KA. 2016. Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review. Genet Med 18:111–116.
-
(2016)
Genet Med
, vol.18
, pp. 111-116
-
-
Douglas, M.P.1
Ladabaum, U.2
Pletcher, M.J.3
Marshall, D.A.4
Phillips, K.A.5
-
19
-
-
22844452823
-
LOVD: easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach
-
Fokkema IFAC, Dunnen den JT, Taschner PEM. 2005. LOVD: easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach. Hum Mutat 26:63–68.
-
(2005)
Hum Mutat
, vol.26
, pp. 63-68
-
-
Dunnen den, J.T.1
Taschner, P.E.M.2
-
20
-
-
84872143942
-
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
-
Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, et al. 2013. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493:216–220.
-
(2013)
Nature
, vol.493
, pp. 216-220
-
-
Fu, W.1
O'Connor, T.D.2
Jun, G.3
Kang, H.M.4
Abecasis, G.5
Leal, S.M.6
Gabriel, S.7
Rieder, M.J.8
Altshuler, D.9
Shendure, J.10
Nickerson, D.A.11
Bamshad, M.J.12
-
21
-
-
84937547912
-
Secondary findings and carrier test frequencies in a large multiethnic sample
-
Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, et al. 2015. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med 7:54.
-
(2015)
Genome Med
, vol.7
, pp. 54
-
-
Gambin, T.1
Jhangiani, S.N.2
Below, J.E.3
Campbell, I.M.4
Wiszniewski, W.5
Muzny, D.M.6
Staples, J.7
Morrison, A.C.8
Bainbridge, M.N.9
Penney, S.10
McGuire, A.L.11
Gibbs, R.A.12
-
22
-
-
84873884799
-
Do researchers have an obligation to actively look for genetic incidental findings?
-
Gliwa C, Berkman BE. 2013. Do researchers have an obligation to actively look for genetic incidental findings? Am J Bioeth 13:32–42.
-
(2013)
Am J Bioeth
, vol.13
, pp. 32-42
-
-
Gliwa, C.1
Berkman, B.E.2
-
23
-
-
79953715693
-
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
-
González-Pérez A, López-Bigas N. 2011. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 88:440–449.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 440-449
-
-
González-Pérez, A.1
López-Bigas, N.2
-
24
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, et al. 2013. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15:565–574.
-
(2013)
Genet Med
, vol.15
, 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
McGuire, A.L.7
Nussbaum, R.L.8
O'Daniel, J.M.9
Ormond, K.E.10
Rehm, H.L.11
Watson, M.S.12
-
25
-
-
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, Bone Jeng LJ, Joseph L, Laser J, Lubin IM, Miller CE, Ross LF, Rothberg PG, Tanner AK, et al. 2015. Reporting incidental findings in genomic scale clinical sequencing—a clinical laboratory perspective: a report of the Association for Molecular Pathology. J Mol Diagn 17:107–117.
-
(2015)
J Mol Diagn
, vol.17
, pp. 107-117
-
-
Hegde, M.1
Bale, S.2
Bayrak-Toydemir, P.3
Gibson, J.4
Bone Jeng, L.J.5
Joseph, L.6
Laser, J.7
Lubin, I.M.8
Miller, C.E.9
Ross, L.F.10
Rothberg, P.G.11
Tanner, A.K.12
-
26
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG. 2012. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet 91:97–108.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 97-108
-
-
Johnston, J.J.1
Rubinstein, W.S.2
Facio, F.M.3
Ng, D.4
Singh, L.N.5
Teer, J.K.6
Mullikin, J.C.7
Biesecker, L.G.8
-
27
-
-
84895858942
-
A general framework for estimating the relative pathogenicity of human genetic variants
-
Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. 2014. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310–315.
-
(2014)
Nat Genet
, vol.46
, pp. 310-315
-
-
Kircher, M.1
Witten, D.M.2
Jain, P.3
O'Roak, B.J.4
Cooper, G.M.5
Shendure, J.6
-
28
-
-
84976904305
-
ClinVar: public archive of interpretations of clinically relevant variants
-
Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J, Jang W, Katz K, et al. 2016. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 44:D862–D868.
-
(2016)
Nucleic Acids Res
, vol.44
, pp. D862-D868
-
-
Landrum, M.J.1
Lee, J.M.2
Benson, M.3
Brown, G.4
Chao, C.5
Chitipiralla, S.6
Gu, B.7
Hart, J.8
Hoffman, D.9
Hoover, J.10
Jang, W.11
Katz, K.12
-
29
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60,706 humans
-
Lek M, Karczewski K, Minikel E, Samocha K, Banks E. 2015. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285–291.
-
(2015)
Nature 536:285–291
-
-
Lek, M.1
Karczewski, K.2
Minikel, E.3
Samocha, K.4
Banks, E.5
-
30
-
-
84951573954
-
Guidelines for diagnostic next-generation sequencing
-
Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, et al. 2016. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 24:2–5.
-
(2016)
Eur J Hum Genet
, vol.24
, pp. 2-5
-
-
Matthijs, G.1
Souche, E.2
Alders, M.3
Corveleyn, A.4
Eck, S.5
Feenstra, I.6
Race, V.7
Sistermans, E.8
Sturm, M.9
Weiss, M.10
Yntema, H.11
Bakker, E.12
-
31
-
-
84947461294
-
Identification of medically actionable secondary findings in the 1000 Genomes
-
Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen L-S, Hartz S, Nagarajan R, Saccone NL, Bierut LJ. 2015. Identification of medically actionable secondary findings in the 1000 Genomes. PLoS One 10:e0135193.
-
(2015)
PLoS One
, vol.10
-
-
Olfson, E.1
Cottrell, C.E.2
Davidson, N.O.3
Gurnett, C.A.4
Heusel, J.W.5
Stitziel, N.O.6
Chen, L.-S.7
Hartz, S.8
Nagarajan, R.9
Saccone, N.L.10
Bierut, L.J.11
-
32
-
-
84920508956
-
Clinical exome performance for reporting secondary genetic findings
-
Park JY, Clark P, Londin E, Sponziello M, Kricka LJ, Fortina P. 2015. Clinical exome performance for reporting secondary genetic findings. Clin Chem 61:213–220.
-
(2015)
Clin Chem
, vol.61
, pp. 213-220
-
-
Park, J.Y.1
Clark, P.2
Londin, E.3
Sponziello, M.4
Kricka, L.J.5
Fortina, P.6
-
34
-
-
80053189298
-
Predicting the functional impact of protein mutations: application to cancer genomics
-
Reva B, Antipin Y, Sander C. 2011. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res 39:e118.
-
(2011)
Nucleic Acids Res
, vol.39
-
-
Reva, B.1
Antipin, Y.2
Sander, C.3
-
35
-
-
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, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. 2015. 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 17:405–423.
-
(2015)
Genet Med
, vol.17
, pp. 405-423
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
Bick, D.4
Das, S.5
Gastier-Foster, J.6
Grody, W.W.7
Hegde, M.8
Lyon, E.9
Spector, E.10
Voelkerding, K.11
Rehm, H.L.12
-
36
-
-
84959220881
-
UMD-Predictor: a high-throughput sequencing compliant system for pathogenicity prediction of any human cDNA substitution
-
Salgado D, Desvignes JP, Rai G, Blanchard A, Miltgen M, Pinard A, Lévy N, Collod-Beroud G, Béroud C. 2016. UMD-Predictor: a high-throughput sequencing compliant system for pathogenicity prediction of any human cDNA substitution. Hum Mutat 37:439–446.
-
(2016)
Hum Mutat
, vol.37
, pp. 439-446
-
-
Salgado, D.1
Desvignes, J.P.2
Rai, G.3
Blanchard, A.4
Miltgen, M.5
Pinard, A.6
Lévy, N.7
Collod-Beroud, G.8
Béroud, C.9
-
37
-
-
84992461090
-
How to identify pathogenic mutations among all those variations: variant annotation and filtration in the genome sequencing era
-
Salgado D, Bellgard MI, Desvignes JP, Béroud C. 2016. How to identify pathogenic mutations among all those variations: variant annotation and filtration in the genome sequencing era. Hum Mutat.
-
(2016)
Hum Mutat
-
-
Salgado, D.1
Bellgard, M.I.2
Desvignes, J.P.3
Béroud, C.4
-
38
-
-
84920545337
-
Reporting genomic secondary findings: ACMG members weigh
-
in
-
Scheuner MT, Peredo J, Benkendorf J, Bowdish B, Feldman G, Fleisher L, Mulvihill JJ, Watson M, Herman GE, Evans J. 2015. Reporting genomic secondary findings: ACMG members weigh in. Genet Med 17:27–35.
-
(2015)
Genet Med
, vol.17
, pp. 27-35
-
-
Scheuner, M.T.1
Peredo, J.2
Benkendorf, J.3
Bowdish, B.4
Feldman, G.5
Fleisher, L.6
Mulvihill, J.J.7
Watson, M.8
Herman, G.E.9
Evans, J.10
-
39
-
-
84897456458
-
MutationTaster2: mutation prediction for the deep-sequencing age
-
Schwarz JM, Cooper DN, Schuelke M, Seelow D. 2014. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361–362.
-
(2014)
Nat Methods
, vol.11
, pp. 361-362
-
-
Schwarz, J.M.1
Cooper, D.N.2
Schuelke, M.3
Seelow, D.4
-
40
-
-
0035173378
-
dbSNP: the NCBI database of genetic variation
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. 2001. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29:308–311.
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
41
-
-
84864430562
-
SIFT web server: predicting effects of amino acid substitutions on proteins
-
Sim N-L, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. 2012. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 40:W452–W457.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. W452-W457
-
-
Sim, N.-L.1
Kumar, P.2
Hu, J.3
Henikoff, S.4
Schneider, G.5
Ng, P.C.6
-
42
-
-
33747891736
-
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
-
Smith PJ, Zhang C, Wang J, Chew SL, Zhang MQ, Krainer AR. 2006. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Gen 15:2490–2508.
-
(2006)
Hum Mol Gen
, vol.15
, pp. 2490-2508
-
-
Smith, P.J.1
Zhang, C.2
Wang, J.3
Chew, S.L.4
Zhang, M.Q.5
Krainer, A.R.6
-
43
-
-
30144433850
-
Locus-specific mutation databases: pitfalls and good practice based on the p53 experience
-
Soussi T, Ishioka C, Claustres M, Béroud C. 2006. Locus-specific mutation databases: pitfalls and good practice based on the p53 experience. Nat Rev Cancer 6:83–90.
-
(2006)
Nat Rev Cancer
, vol.6
, pp. 83-90
-
-
Soussi, T.1
Ishioka, C.2
Claustres, M.3
Béroud, C.4
-
44
-
-
84891837451
-
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
-
Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. 2014. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Gen 133:1–9.
-
(2014)
Hum Gen
, vol.133
, pp. 1-9
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Shaw, K.4
Phillips, A.5
Cooper, D.N.6
-
45
-
-
69249220259
-
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene
-
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc J-M, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, et al. 2009. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet 17:1121–1128.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1121-1128
-
-
Stheneur, C.1
Collod-Béroud, G.2
Faivre, L.3
Buyck, J.F.4
Gouya, L.5
Le Parc, J.-M.6
Moura, B.7
Muti, C.8
Grandchamp, B.9
Sultan, G.10
Claustres, M.11
Aegerter, P.12
-
46
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, et al. 2012. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337:64–69.
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
Fu, W.4
Kenny, E.E.5
Gravel, S.6
McGee, S.7
Do, R.8
Liu, X.9
Jun, G.10
Kang, H.M.11
Jordan, D.12
-
47
-
-
84881420673
-
Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics
-
van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H, Scheffer H, Tranebjaerg L, et al. 2013. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet 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
Howard, H.C.7
Cambon-Thomsen, A.8
Knoppers, B.M.9
Meijers-Heijboer, H.10
Scheffer, H.11
Tranebjaerg, L.12
-
48
-
-
84961683168
-
Human Variome Project quality assessment criteria for variation databases
-
Vihinen M, Hancock JM, Maglott DR, Landrum MJ, Schaafsma GCP, Taschner P. 2016. Human Variome Project quality assessment criteria for variation databases. Hum Mutat 37:549–558.
-
(2016)
Hum Mutat
, vol.37
, pp. 549-558
-
-
Vihinen, M.1
Hancock, J.M.2
Maglott, D.R.3
Landrum, M.J.4
Schaafsma, G.C.P.5
Taschner, P.6
-
49
-
-
77956534324
-
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. 2010. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
50
-
-
84870900036
-
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
-
1000 Genomes Project Consortium
-
Xue Y, Chen Y, Ayub Q, Huang N, Ball EV, Mort M, Phillips AD, Shaw K, Stenson PD, Cooper DN, Tyler-Smith C, 1000 Genomes Project Consortium. 2012. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet 91:1022–1032.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 1022-1032
-
-
Xue, Y.1
Chen, Y.2
Ayub, Q.3
Huang, N.4
Ball, E.V.5
Mort, M.6
Phillips, A.D.7
Shaw, K.8
Stenson, P.D.9
Cooper, D.N.10
Tyler-Smith, C.11
-
51
-
-
84938993182
-
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders
-
Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, Lakhani S, AlMulla M, Nawaz Z, Vitazka P, Alkuraya FS, et al. 2015. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Gen 134:967–980.
-
(2015)
Hum Gen
, vol.134
, pp. 967-980
-
-
Yavarna, T.1
Al-Dewik, N.2
Al-Mureikhi, M.3
Ali, R.4
Al-Mesaifri, F.5
Mahmoud, L.6
Shahbeck, N.7
Lakhani, S.8
AlMulla, M.9
Nawaz, Z.10
Vitazka, P.11
Alkuraya, F.S.12
-
52
-
-
2442441507
-
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
-
Yeo G, Burge CB. 2004. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377–394.
-
(2004)
J Comput Biol
, vol.11
, pp. 377-394
-
-
Yeo, G.1
Burge, C.B.2
|