{"id":24903,"date":"2022-04-19T10:30:15","date_gmt":"2022-04-19T15:30:15","guid":{"rendered":"https:\/\/saluddigital.com\/?p=24903"},"modified":"2025-10-21T09:34:20","modified_gmt":"2025-10-21T15:34:20","slug":"cientificos-publican-hallazgos-sobre-la-secuenciacion-completa-del-genoma-humano","status":"publish","type":"post","link":"https:\/\/saluddigital.com\/en\/big-data\/cientificos-publican-hallazgos-sobre-la-secuenciacion-completa-del-genoma-humano\/","title":{"rendered":"Scientists Publish Findings on Whole Human Genome Sequencing"},"content":{"rendered":"
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The Human Genome Project, which began in 1990 with the aim of deciphering the genetic code of the human being, laid the foundations for this year to publish advances on the complete sequencing of the genome. <\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t
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The first publications and research on the sequencing of the human genome came to light in the year 2000. The first complete sequencing promised to be one of the most important scientific advances, however, it only presented a fraction of the genome.<\/p>

Later in 2003, the sequence of the 92% of the human genome was presented, and for almost 20 years scientists have spent thousands of hours in research to decipher the remaining 8%.<\/p>

The current reference genome was published by the Genome Reference Consortium (GRC) in 2013 and was modified in 2019. This work has its origin in the Human Genome Project that concluded in 2005, which was the basis for future research, such as the of the Telomere-to-Telomere (T2T) Consortium.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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Recently, the T2T presented a complete sequence of 3 thousand 55 million base pairs of a human genome. T2T-CHM13, as it was called, \u201ccorrects errors in previous references, and introduces nearly 200 million base pairs of sequence containing 1,956 gene predictions, 99 of which are predicted to encode proteins,\u201d the authors explain. from The complete sequence of a human genome<\/em>, article published in Science in March 2022.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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The T2T-CHM13 assembly added five complete chromosome arms and more additional sequences than previous publications in the last 20 years. The remaining 8% genome had not been sequenced due to technological limitations and the large amounts of information that must be processed.<\/p>

However, through high-precision long read sequencing it was possible to overcome the technological barrier \u201cenabling comprehensive studies of genomic variation across the human genome, which we hope will drive future discovery in human genomic health and disease\u201d, explains the study.<\/p>

Learn more by reading the full article:<\/p>

https:\/\/www.science.org\/doi\/10.1126\/science.abj6987<\/a><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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SCIENCE<\/strong><\/p>

https:\/\/www.science.org\/doi\/10.1126\/science.abj6987<\/a><\/p>

THE WORLD<\/strong><\/p>

https:\/\/www.elmundo.es\/elmundosalud\/2000\/06\/\/27\/biociencia\/962017698.html<\/a><\/p>

THE VOICE OF GALICIA<\/strong><\/p>

https:\/\/www.lavozdegalicia.es\/noticia\/sociedad\/2000\/06\/26\/conocimiento-genoma-revolucionara-medicina-biologia-humano\/0003_89202.htm#<\/a><\/p>

BBC<\/strong><\/p>

http:\/\/news.bbc.co.uk\/1\/hi\/sci\/tech\/2940601.stm<\/a><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"

El Proyecto Genoma Humano que inici\u00f3 en 1990 con el objetivo de descifrar el c\u00f3digo gen\u00e9tico del ser humano, sent\u00f3 las bases para que este a\u00f1o se publicaran avances sobre la secuenciaci\u00f3n completa del genoma. Las primeras publicaciones e investigaciones sobre la secuenciaci\u00f3n del genoma humano, vieron luz en el a\u00f1o 2000. La primera secuenciaci\u00f3n completa promet\u00eda ser uno de los avances cient\u00edficos m\u00e1s importantes, sin embargo, esta solo presentaba una fracci\u00f3n del genoma. Posteriormente en el a\u00f1o 2003, fue presentada la secuencia del 92% del genoma humano, y durante casi 20 a\u00f1os cient\u00edficos han dedicado miles de horas en la investigaci\u00f3n para descifrar el 8% restante. El genoma de referencia actual fue publicado por el Genome Reference Consortium (GRC) en 2013 y fue modificado en 2019. Este trabajo tiene su origen en el Proyecto Genoma Humano que concluy\u00f3 en 2005, el cual fue la base para las investigaciones futuras, como la del Consorcio Telomere-to-Telomere (T2T). Recientemente, el T2T, present\u00f3 una secuencia completa de 3 mil 55 millones de pares de bases de un genoma humano. El T2T-CHM13, como fue denominado, \u201ccorrige errores en las referencias anteriores, e introduce casi 200 millones de pares de bases de secuencia que contienen 1956 predicciones de genes, 99 de los cuales se prev\u00e9 que codifican prote\u00ednas\u201d, seg\u00fan explican los autores de La secuencia completa de un genoma humano, art\u00edculo publicado en Science en marzo de 2022. El ensamblaje T2T-CHM13 a\u00f1adi\u00f3 cinco brazos cromos\u00f3micos completos y m\u00e1s secuencias adicionales que las publicaciones anteriores realizadas en los \u00faltimos 20 a\u00f1os. El 8% del genoma restante no hab\u00eda logrado ser secuenciado debido a las limitaciones tecnol\u00f3gicas y las grandes cantidades de informaci\u00f3n que deben ser procesadas. No obstante, a trav\u00e9s de la secuenciaci\u00f3n de lectura larga de alta precisi\u00f3n fue posible superar la barrera tecnol\u00f3gica \u201cpermitiendo estudios integrales de la variaci\u00f3n gen\u00f3mica en todo el genoma humano, que esperamos impulse el descubrimiento futuro en la salud y la enfermedad gen\u00f3mica humana\u201d, explica el estudio. Conoce m\u00e1s leyendo el art\u00edculo completo: https:\/\/www.science.org\/doi\/10.1126\/science.abj6987 BIBLIOGRAF\u00cdA SCIENCE https:\/\/www.science.org\/doi\/10.1126\/science.abj6987 EL MUNDO https:\/\/www.elmundo.es\/elmundosalud\/2000\/06\/\/27\/biociencia\/962017698.html LA VOZ DE GALICIA https:\/\/www.lavozdegalicia.es\/noticia\/sociedad\/2000\/06\/26\/conocimiento-genoma-revolucionara-medicina-biologia-humano\/0003_89202.htm# BBC http:\/\/news.bbc.co.uk\/1\/hi\/sci\/tech\/2940601.stm<\/p>","protected":false},"author":1,"featured_media":24904,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3399,156,3393,160],"tags":[145],"class_list":["post-24903","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ai-analitica","category-big-data","category-inteligencia-artificial-y-ciencia","category-noticias","tag-noticias"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/posts\/24903","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/comments?post=24903"}],"version-history":[{"count":0,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/posts\/24903\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/media\/24904"}],"wp:attachment":[{"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/media?parent=24903"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/categories?post=24903"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/tags?post=24903"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}