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36. Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative
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37. Afgan E, Baker D, van den Beek M, Blankenberg D, Bouvier D, Čech M, et al. The Galaxy
platform for accessible, reproducible and collaborative biomedical analyses: 2016 update.
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38. Ossio R, Garcia-Salinas OI, Anaya-Mancilla DS, Garcia-Sotelo JS, Aguilar LA, Adams DJ, et al.
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing
projects. Bioinformatics. 2019;35(22):4803–5.
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142
P. Basurto-Lozada et al.
mutations in health and disease. Genome Biol. 2016;17(1):241.
21. Firth HV, Wright CF, Study DDD. The Deciphering Developmental Disorders (DDD) study. Dev
Med Child Neurol. 2011;53(8):702–3.
22. Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of
developmental disorders. Nature. 2015;519(7542):223–8.
23. Carneiro TN, Krepischi AC, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, et al.
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated
syndromic intellectual disability: illustrative cases. Appl Clin Genet. 2018;11:93–8.
24. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, et al. dbSNP: the NCBI
database of genetic variation. Nucleic Acids Res. 2001;29(1):308–11.
25. 1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM,
et al. A global reference for human genetic variation. Nature. 2015;526(7571):68–74.
26. Goldstein DB, Allen A, Keebler J, Margulies EH, Petrou S, Petrovski S, et al. Sequencing studies
in human genetics: design and interpretation. Nat Rev Genet. 2013;14(7):460–70.
27. Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, et al. Carrier testing for
severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011;3
(65):65ra4.
28. Pabinger S, Dander A, Fischer M, Snajder R, Sperk M, Efremova M, et al. A survey of tools for
variant analysis of next-generation genome sequencing data. Brief Bioinform. 2014;15(2):256–
78.
29. McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GRS, Thormann A, et al. The Ensembl Variant
Effect Predictor. Genome Biol. 2016;17(1):122.
30. Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, et al. A program for annotating
and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of
Drosophila melanogaster strain w1118; iso-2; iso-3. Fly. 2012;6(2):80–92.
31. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from highthroughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
32. MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, et al.
Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508
(7497):469–76.
33. Minikel EV, MacArthur DG. Publicly available data provide evidence against NR1H3 R415Q
causing multiple sclerosis. Neuron. 2016;92(2):336–8.
34. Verhagen JMA, Veldman JH, van der Zwaag PA, von der Thüsen JH, Brosens E, Christiaans I, et
al. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy. Eur J Hum
Genet. 2018;26(11):1603–10.
35. Chiu C, Tebo M, Ingles J, Yeates L, Arthur JW, Lind JM, et al. Genetic screening of calcium
regulation genes in familial hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2007;43(3):337–
43.
36. Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative
genomics viewer. Nat Biotechnol. 2011;29(1):24–6.
37. Afgan E, Baker D, van den Beek M, Blankenberg D, Bouvier D, Čech M, et al. The Galaxy
platform for accessible, reproducible and collaborative biomedical analyses: 2016 update.
Nucleic Acids Res. 2016;44(W1):W3–10.
38. Ossio R, Garcia-Salinas OI, Anaya-Mancilla DS, Garcia-Sotelo JS, Aguilar LA, Adams DJ, et al.
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing
projects. Bioinformatics. 2019;35(22):4803–5.
39. Pop M. Genome assembly reborn: recent computational challenges. Brief Bioinform. 2009;10
(4):354–66.
142
P. Basurto-Lozada et al.