Published October 22, 2019 | Version v1
Publication Open

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations

Creators

  • 1. Shanghai Institute of Nutrition and Health
  • 2. University of Chinese Academy of Sciences
  • 3. Shanghai Institutes for Biological Sciences
  • 4. UCSI University
  • 5. ShanghaiTech University

Description

Abstract Despite the tremendous growth of the DNA sequencing data in the last decade, our understanding of the human genome is still in its infancy. To understand the implications of genetic variants in the light of population genetics and molecular evolution, we developed a database, PGG .SNV ( https://www.pggsnv.org ), which gives much higher weight to previously under-investigated indigenous populations in Asia. PGG .SNV archives 265 million SNVs across 220,147 present-day genomes and 1018 ancient genomes, including 1009 newly sequenced genomes, representing 977 global populations. Moreover, estimation of population genetic diversity and evolutionary parameters is available in PGG .SNV, a unique feature compared with other databases.

⚠️ This is an automatic machine translation with an accuracy of 90-95%

Translated Description (Arabic)

على الرغم من النمو الهائل لبيانات تسلسل الحمض النووي في العقد الماضي، إلا أن فهمنا للجينوم البشري لا يزال في مراحله الأولى. لفهم الآثار المترتبة على المتغيرات الجينية في ضوء علم الوراثة السكانية والتطور الجزيئي، قمنا بتطوير قاعدة بيانات، PGG .SNV (https://www.pggsnv.org)، والتي تعطي وزنًا أعلى بكثير للسكان الأصليين الذين تم التحقيق معهم سابقًا في آسيا. أرشيفات PGG .SNV 265 مليون SNV عبر 220،147 جينوم في الوقت الحاضر و 1018 جينوم قديم، بما في ذلك 1009 جينوم متسلسل حديثًا، يمثل 977 مجموعة سكانية عالمية. علاوة على ذلك، يتوفر تقدير التنوع الجيني السكاني والمعلمات التطورية في PGG .SNV، وهي ميزة فريدة مقارنة بقواعد البيانات الأخرى.

Translated Description (French)

Résumé Malgré l'énorme croissance des données de séquençage de l'ADN au cours de la dernière décennie, notre compréhension du génome humain en est encore à ses balbutiements. Pour comprendre les implications des variantes génétiques à la lumière de la génétique des populations et de l'évolution moléculaire, nous avons développé une base de données, PGG .SNV (https://www.pggsnv.org), qui donne beaucoup plus de poids aux populations autochtones précédemment sous-investigées en Asie. PGG .SNV archive 265 millions de SNV sur 220 147 génomes actuels et 1018 génomes anciens, dont 1009 génomes nouvellement séquencés, représentant 977 populations mondiales. De plus, l'estimation de la diversité génétique des populations et des paramètres évolutifs est disponible dans PGG .SNV, une caractéristique unique par rapport aux autres bases de données.

Translated Description (Spanish)

Resumen A pesar del tremendo crecimiento de los datos de secuenciación de ADN en la última década, nuestra comprensión del genoma humano aún está en pañales. Para comprender las implicaciones de las variantes genéticas a la luz de la genética de poblaciones y la evolución molecular, desarrollamos una base de datos, PGG .SNV ( https://www.pggsnv.org ), que otorga un peso mucho mayor a las poblaciones indígenas previamente subinvestigadas en Asia. PGG .SNV archiva 265 millones de SNV en 220,147 genomas actuales y 1018 genomas antiguos, incluidos 1009 genomas recién secuenciados, que representan 977 poblaciones globales. Además, la estimación de la diversidad genética de la población y los parámetros evolutivos están disponibles en PGG .SNV, una característica única en comparación con otras bases de datos.

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Additional details

Additional titles

Translated title (Arabic)
PGG.SNV: فهم الآثار التطورية والطبية لتغيرات النيوكليوتيدات الفردية البشرية في مجموعات سكانية متنوعة
Translated title (French)
PGG.SNV : comprendre les implications évolutives et médicales des variations d'un seul nucléotide humain dans diverses populations
Translated title (Spanish)
PGG.SNV: comprensión de las implicaciones evolutivas y médicas de las variaciones humanas de un solo nucleótido en diversas poblaciones

Identifiers

Other
https://openalex.org/W2982254257
DOI
10.1186/s13059-019-1838-5

Is supplement to
https://openalex.org/W4301252023 (Other)
https://openalex.org/W4220835959 (Other)
https://openalex.org/W3096600795 (Other)
https://openalex.org/W2331324140 (Other)
https://openalex.org/W2323327415 (Other)
https://openalex.org/W2156272823 (Other)
https://openalex.org/W2131034894 (Other)
https://openalex.org/W2083390520 (Other)
https://openalex.org/W2036202357 (Other)
https://openalex.org/W1963838054 (Other)

GreSIS Basics Section

Is Global South Knowledge
Yes
Country
Malaysia

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