MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays-Reference-Cited by-同舟云学术

MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays

Published:2021-11-30 Issue: Volume: Page:
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Author:

Rubin Alan F^ORCID,Min Joseph K,Rollins Nathan J,Da Estelle Y,Esposito Daniel,Harrington Matthew,Stone Jeremy,Bianchi Aisha Haley,Dias Mafalda,Frazer Jonathan,Fu Yunfan,Gallaher Molly,Li Iris,Moscatelli Olivia,Ong Jesslyn YL,Rollins Joshua E,Wakefield Matthew J,“Sunny” Ye Shenyi,Tam Amy,McEwen Abbye E,Starita Lea M,Bryant Vanessa L,Marks Debora S,Fowler Douglas M

Abstract

AbstractA central problem in genomics is understanding the effect of individual DNA variants. Multiplexed Assays of Variant Effect (MAVEs) can help address this challenge by measuring all possible single nucleotide variant effects in a gene or regulatory sequence simultaneously. Here we describe MaveDB v2, which has become the database of record for MAVEs. MaveDB now contains a large fraction of published studies, comprising over two hundred datasets and three million variant effect measurements. We created tools and APIs to streamline data submission and access, transforming MaveDB into a hub for the analysis and dissemination of these impactful datasets.

Publisher

Cold Spring Harbor Laboratory

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