MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1093/nar/gkaa753

Медицинская библиотека · Nucleic acids research · 2021

IDDB: a comprehensive resource featuring genes, variants and characteristics associated with infertility.

Wu Jing, Li Danjun, Liu Xinyi, Li Qian, He Xinheng, Wei Jiale, Li Xinyi, Li Mingyu, Rehman Ashfaq Ur, Xia Yujia, Wu Chengwei, Zhang Jian, Lu Xuefeng

СтатьяПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

Infertility is a complex multifactorial disease that affects up to 10% of couples across the world. However, many mechanisms of infertility remain unclear due to the lack of studies based on systematic knowledge, leading to ineffective treatment and/or transmission of genetic defects to offspring. Here, we developed an infertility disease database to provide a comprehensive resource featuring various factors involved in infertility. Features in the current IDDB version were manually curated as follows: (i) a total of 307 infertility-associated genes in human and 1348 genes associated with reproductive disorder in 9 model organisms; (ii) a total of 202 chromosomal abnormalities leading to human infertility, including aneuploidies and structural variants; and (iii) a total of 2078 pathogenic variants from infertility patients' samples across 60 different diseases causing infertility. Additionally, the characteristics of clinically diagnosed infertility patients (i.e. causative variants, laboratory indexes and clinical manifestations) were collected. To the best of our knowledge, the IDDB is the first infertility database serving as a systematic resource for biologists to decipher infertility mechanisms and for clinicians to achieve better diagnosis/treatment of patients from disease phenotype to genetic factors. The IDDB is freely available at http://mdl.shsmu.edu.cn/IDDB/.

Для цитирования: Wu Jing, Li Danjun, Liu Xinyi, Li Qian, He Xinheng, Wei Jiale, Li Xinyi, Li Mingyu, Rehman Ashfaq Ur, Xia Yujia, Wu Chengwei, Zhang Jian, Lu Xuefeng. IDDB: a comprehensive resource featuring genes, variants and characteristics associated with infertility.. Nucleic acids research. 2021. DOI: 10.1093/nar/gkaa753.

Предметные рубрики MeSH

Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.