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Marcel Caraciolo, CTO
marcel@genomika.com.br
Construindo softwares de bioinformática para
análises clínicas : Desafios e o...
Quem somos ?
Um dos laboratórios mais avançados
em clínica genética do Brasil e o
primeiro localizado na região Norte e
No...
Genética Clínica
Mercado mundial em crescimento e
recente no Brasil
Tecnologia e especialistas
Fusão de especialistas em biologia
molecular e tecnologia de informação
João	
  Bosco	
  Olivei...
O que é bioinformática ?
O que é bioinformática ?
O que é bioinformática ?
O que é bioinformática ?
Mas por que é tão diferente ?
Tamanho
Tamanho
Tamanho
Tamanho
Tamanho
Tamanho
Does it work ?
char [] humanDNA = char[ 3 200 000 000];
Tamanho
Does it work ?
char [] humanDNA = char[ 3 200 000 000];
Tamanho
Does it work ?
char [] humanDNA = char[ 3 200 000 000];
Tamanho
Tamanho
Tamanho
Tamanho
Volume
Volume
Volume
Volume
Volume
Volume
Volume
Volume
Volume
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Significado
Como estruturamos isto ?
Análise de Variantes
Análise de Variantes
Análise de Variantes
Variant analysis
E a gestão do laboratório ?
Ciclo de vida de um exame
Ciclo de vida de um exame
Atendimento
Novas tecnologias que resultam em melhor
qualidade de atendimento ao paciente e
otimização do processo de tria...
Estoque, gestão de equipamentos…
Ciclo de vida de um exame
Bioinformática
Busca, identificação e anotação de
mutações sobre grandes bases de dados de
variantes e doenças genéticas.
Bioinformática
Nosso desafio diário: Mais de 10 banco de
dados minerados, alguns deles com mais de
1.000.000 anomalias gen...
Bioinformática
Junção processamento de alto desempenho,
algoritmos de big data e armazenamento
escalável de dados
0.1 a 35...
Bioinformática
Ciclo de vida de um exame
Resultados
Os resultados com acessibilidade em vários formatos e
personalizados para o médico ou paciente.
Segurança ?!
Conclusões
Bioinformatics:
Interesting area
Many open problems
opportunities to acquire and apply knowledge
opportunities ...
Conclusões
Health Informatics
improve health informatics system
Several technologies still to improve
Processes, workflows...
Como posso aprender mais?
Tales of Genome (Udacity)
Curso On-line gratuito sobre Genética (bem completo!)
Rosalind
Desafios de Python na área de bioinformática
rosalind.info/
Broad workshops
Variant analysis; sequencing pipelines, etc.
https://www.broadinstitute.org/partnerships/education/broade/...
Trabalhe conosco!
github.com/genomika/jobs
Marcel Caraciolo, CTO
marcel@genomika.com.br
Construindo softwares de bioinformática para
análises clínicas : Desafios e o...
Construindo softwares  de bioinformática  para análises clínicas : Desafios e oportunidades
Construindo softwares  de bioinformática  para análises clínicas : Desafios e oportunidades
Construindo softwares  de bioinformática  para análises clínicas : Desafios e oportunidades
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Construindo softwares de bioinformática para análises clínicas : Desafios e oportunidades

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Construindo softwares de bioinformática para análises clínicas : Desafios e oportunidades

Apresentação realizada no CESAR TechDay em Fevereiro/2015.

Veröffentlicht in: Technologie
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Construindo softwares de bioinformática para análises clínicas : Desafios e oportunidades

  1. 1. Marcel Caraciolo, CTO marcel@genomika.com.br Construindo softwares de bioinformática para análises clínicas : Desafios e oportunidades
  2. 2. Quem somos ? Um dos laboratórios mais avançados em clínica genética do Brasil e o primeiro localizado na região Norte e Nordeste. ! ! ! ! Portfólio de testes genéticos para diagnóstico e tratamento personalizado de doenças hereditárias, raras e tumores.
  3. 3. Genética Clínica Mercado mundial em crescimento e recente no Brasil
  4. 4. Tecnologia e especialistas Fusão de especialistas em biologia molecular e tecnologia de informação João  Bosco  Oliveira,  CEO  e  Co-­‐Fundador   M.D,    PhD  e  ex-­‐chefe  de  pesquisa  do  serviço     de  imunologia  e  genética  do  Dpto.  de  Medicina   Laboratorial,  Centro  Clínico,  National  Institutes   of  Health  ,  USA.
  5. 5. O que é bioinformática ?
  6. 6. O que é bioinformática ?
  7. 7. O que é bioinformática ?
  8. 8. O que é bioinformática ?
  9. 9. Mas por que é tão diferente ?
  10. 10. Tamanho
  11. 11. Tamanho
  12. 12. Tamanho
  13. 13. Tamanho
  14. 14. Tamanho
  15. 15. Tamanho Does it work ? char [] humanDNA = char[ 3 200 000 000];
  16. 16. Tamanho Does it work ? char [] humanDNA = char[ 3 200 000 000];
  17. 17. Tamanho Does it work ? char [] humanDNA = char[ 3 200 000 000];
  18. 18. Tamanho
  19. 19. Tamanho
  20. 20. Tamanho
  21. 21. Tamanho
  22. 22. Volume
  23. 23. Volume
  24. 24. Volume
  25. 25. Volume
  26. 26. Volume
  27. 27. Volume
  28. 28. Volume
  29. 29. Volume
  30. 30. Volume
  31. 31. Significado
  32. 32. Significado
  33. 33. Significado
  34. 34. Significado
  35. 35. Significado
  36. 36. Significado
  37. 37. Significado
  38. 38. Significado
  39. 39. Significado
  40. 40. Significado
  41. 41. Significado
  42. 42. Significado
  43. 43. Significado
  44. 44. Significado
  45. 45. Significado
  46. 46. Significado
  47. 47. Significado
  48. 48. Como estruturamos isto ? Análise de Variantes
  49. 49. Análise de Variantes
  50. 50. Análise de Variantes
  51. 51. Variant analysis
  52. 52. E a gestão do laboratório ?
  53. 53. Ciclo de vida de um exame
  54. 54. Ciclo de vida de um exame
  55. 55. Atendimento Novas tecnologias que resultam em melhor qualidade de atendimento ao paciente e otimização do processo de triagem de amostras.
  56. 56. Estoque, gestão de equipamentos…
  57. 57. Ciclo de vida de um exame
  58. 58. Bioinformática Busca, identificação e anotação de mutações sobre grandes bases de dados de variantes e doenças genéticas.
  59. 59. Bioinformática Nosso desafio diário: Mais de 10 banco de dados minerados, alguns deles com mais de 1.000.000 anomalias genéticas sendo analisados para cada 1 amostra. Númerodebasesdedados 0 4 8 12 16 Númerodeanomalias
 (emmilhões) 0 18 35 53 70 Tempo 2013 2014.1 2014.2 2015
  60. 60. Bioinformática Junção processamento de alto desempenho, algoritmos de big data e armazenamento escalável de dados 0.1 a 35 GB de dados gerados por paciente Mais de 100 amostras processadas por semana ~= 1.75 TB por semana Tempo de entrega manter-se constante Dados entregues aos especialistas em um formato de fácil interpretação.
  61. 61. Bioinformática
  62. 62. Ciclo de vida de um exame
  63. 63. Resultados Os resultados com acessibilidade em vários formatos e personalizados para o médico ou paciente.
  64. 64. Segurança ?!
  65. 65. Conclusões Bioinformatics: Interesting area Many open problems opportunities to acquire and apply knowledge opportunities from projects reachable, several courses worldwide
  66. 66. Conclusões Health Informatics improve health informatics system Several technologies still to improve Processes, workflows and user experience Information architecture Lack of good solutions
  67. 67. Como posso aprender mais? Tales of Genome (Udacity) Curso On-line gratuito sobre Genética (bem completo!)
  68. 68. Rosalind Desafios de Python na área de bioinformática rosalind.info/
  69. 69. Broad workshops Variant analysis; sequencing pipelines, etc. https://www.broadinstitute.org/partnerships/education/broade/broad-workshops/
  70. 70. Trabalhe conosco! github.com/genomika/jobs
  71. 71. Marcel Caraciolo, CTO marcel@genomika.com.br Construindo softwares de bioinformática para análises clínicas : Desafios e oportunidades “Biology easily has 500 years of exciting problems to work on.” Donald Knuth, 1993

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