Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova,
A., Bork, P., … Sunyaev, S. R. (2010). A method and server for
predicting damaging missense mutations. Nature methods,7(4), 248–249. https://doi.org/10.1038/nmeth0410-248
Amberger, J. S., Bocchini, C. A., Scott, A. F., & Hamosh, A. (2019).
OMIM.org: leveraging knowledge across phenotype-gene relationships.Nucleic acids research, 47(D1), D1038–D1043.
https://doi.org/10.1093/nar/gky1151
Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock,
D., & Kingsmore, S. F. (2018). Meta-analysis of the diagnostic and
clinical utility of genome and exome sequencing and chromosomal
microarray in children with suspected genetic diseases. Npj
Genomic Medicine, 3(1), 1–10.
https://doi.org/10.1038/s41525-018-0053-8
Clift, K., Macklin, S., Halverson, C., McCormick, J. B., Abu Dabrh, A.
M., & Hines, S. (2020). Patients’ views on variants of uncertain
significance across indications. Journal of Community Genetics,11(2), 139–145. https://doi.org/10.1007/s12687-019-00434-7
Defesche, J. C., Gidding, S. S., Harada-Shiba, M., Hegele, R. A.,
Santos, R. D., & Wierzbicki, A. S. (2017). Familial
hypercholesterolaemia. Nature Reviews. Disease Primers, 3,
17093. https://doi.org/10.1038/nrdp.2017.93
Evans W. R. (2018). Dare to think rare: diagnostic delay and rare
diseases. The British journal of general practice : the journal of
the Royal College of General Practitioners, 68(670), 224–225.
https://doi.org/10.3399/bjgp18X695957
Fogel, B. L., Satya-Murti, S., & Cohen, B. H. (2016). Clinical exome
sequencing in neurologic disease. Neurology. Clinical practice,6(2), 164–176. https://doi.org/10.1212/CPJ.0000000000000239
Gainotti, S., Mascalzoni, D., Bros-Facer, V., Petrini, C., Floridia, G.,
Roos, M., … Taruscio, D. (2018). Meeting Patients’ Right to the
Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare
Diseases and Ethical and Social Issues. International journal of
environmental research and public health, 15(10), 2072.
https://doi.org/10.3390/ijerph15102072
Ghosh, R., Oak, N., & Plon, S. E. (2017). Evaluation of in silico
algorithms for use with ACMG/AMP clinical variant interpretation
guidelines. Genome Biology, 18(1), 1–12.
https://doi.org/10.1186/s13059-017-1353-5
Hoffman-Andrews, L. (2017). The known unknown: The challenges of genetic
variants of uncertain significance in clinical practice. Journal
of Law and the Biosciences, 4(3), 648–657.
https://doi.org/10.1093/jlb/lsx038
Ioannidis, N. M., Rothstein, J. H., Pejaver, V., Middha, S., McDonnell,
S. K., Baheti, S., … Sieh, W. (2016). REVEL: An Ensemble Method
for Predicting the Pathogenicity of Rare Missense Variants.American Journal of Human Genetics, 99(4), 877–885.
https://doi.org/10.1016/j.ajhg.2016.08.016
Ionita-Laza, I., Mccallum, K., Xu, B., & Buxbaum, J. D. (2016). A
spectral approach integrating functional genomic annotations for coding
and noncoding variants. Nature Genetics, 48(2), 214–220.
https://doi.org/10.1038/ng.3477
Kato, G. J., Piel, F. B., Reid, C. D., Gaston, M. H., Ohene-Frempong,
K., Krishnamurti, L., … Vichinsky, E. P. (2018). Sickle cell disease.Nature reviews. Disease primers, 4, 18010.
https://doi.org/10.1038/nrdp.2018.10
Landrum, M. J., Lee, J. M., Benson, M., Brown, G. R., Chao, C.,
Chitipiralla, S., … Maglott, D. R. (2018). ClinVar: Improving
access to variant interpretations and supporting evidence. Nucleic
Acids Research, 46(D1), D1062–D1067.
https://doi.org/10.1093/nar/gkx1153
Liu, X., Wu, C., Li, C., & Boerwinkle, E. (2016). dbNSFP v3.0: A
One-Stop Database of Functional Predictions and Annotations for Human
Nonsynonymous and Splice-Site SNVs. Human Mutation, 37(3),
235–241. https://doi.org/10.1002/humu.22932
McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S.,
Thormann, A., …Cunningham, F. (2016). The Ensembl Variant Effect
Predictor. Genome Biology, 17(1), 1–14.
https://doi.org/10.1186/s13059-016-0974-4
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A.
R., Carter, N. P., … Ledbetter, D. H. (2010). Consensus
Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic
Test for Individuals with Developmental Disabilities or Congenital
Anomalies. American Journal of Human Genetics, 86(5),
749–764. https://doi.org/10.1016/j.ajhg.2010.04.006
Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J., & Kircher, M.
(2019). CADD: Predicting the deleteriousness of variants throughout the
human genome. Nucleic Acids Research, 47(D1), D886–D894.
https://doi.org/10.1093/nar/gky1016
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J.,
… Rehm, H. L. (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. Genetics in Medicine, 17(5),
405–424. https://doi.org/10.1038/gim.2015.30
Strausbaugh, S. D., & Davis, P. B. (2007). Cystic Fibrosis: A Review of
Epidemiology and Pathobiology. Clinics in Chest Medicine,28(2), 279–288. https://doi.org/10.1016/j.ccm.2007.02.011
Sun, S., Weile, J., Verby, M., Wu, Y., Wang, Y., Cote, A. G., … Roth,
F. P. (2020). A proactive genotype-to-patient-phenotype map for
cystathionine beta-synthase. Genome medicine, 12(1), 13.
https://doi.org/10.1186/s13073-020-0711-1
Vaser, R., Adusumalli, S., Leng, S. N., Sikic, M., & Ng, P. C. (2016).
SIFT missense predictions for genomes. Nature Protocols,11(1), 1–9. https://doi.org/10.1038/nprot.2015.123
Walsh, R., Mazzarotto, F., Whiffin, N., Buchan, R., Midwinter, W., Wilk,
A., … Ware, J. S. (2019). Quantitative approaches to variant
classification increase the yield and precision of genetic testing in
Mendelian diseases: The case of hypertrophic cardiomyopathy.Genome Medicine, 11(1), 1–18.
https://doi.org/10.1186/s13073-019-0616-z
Weile, J., & Roth, F. P. (2018). Multiplexed assays of variant effects
contribute to a growing genotype–phenotype atlas. Human
Genetics, 137(9), 665–678.
https://doi.org/10.1007/s00439-018-1916-x
Zeng, Z., & Bromberg, Y. (2019). Predicting Functional Effects of
Synonymous Variants: A Systematic Review and Perspectives.Frontiers in genetics, 10, 914.
https://doi.org/10.3389/fgene.2019.00914
Zerbino, D. R., Achuthan, P., Akanni, W., Amode, M. R., Barrell, D.,
Bhai, J., … Flicek, P. (2018). Ensembl 2018. Nucleic Acids
Research, 46(D1), D754–D761.
https://doi.org/10.1093/nar/gkx1098