VarCards2

VarCards2 is a free, user-friendly online database aligned with ACMG-AMP guidelines, integrating over 150 annotation sources to cover nearly 9 billion SNVs, 368 million short INDELs, and 2.77 million CNVs (including mitochondrial variants). It provides comprehensive variant- and gene-level annotations, supports quick searches and batch VCF4 file annotation, and significantly boosts the efficiency of whole-genome genetic counselling for clinicians and genetic counsellors without advanced bioinformatics skills.

VarCards2是一款符合ACMG-AMP指南的免费易用在线数据库，整合了超150种注释数据源，覆盖近90亿个单核苷酸变异（Single Nucleotide Variant，SNV）、3.68亿个短插入缺失变异（Insertion-Deletion Variant，INDEL）以及277万个拷贝数变异（Copy Number Variant，CNV，包含线粒体变异）。该数据库提供全面的变异级与基因级注释信息，支持快速检索及批量VCF4格式文件注释，可显著提升不具备专业生物信息学技能的临床医师与遗传咨询师开展全基因组遗传咨询的效率。

搜集汇总

背景与挑战

背景概述

VarCards2是一个整合的遗传和临床数据库，支持ACMG-AMP变异解释指南，提供多种功能预测算法和丰富的突变数据，包括741,866个新生突变和近50,000个剪接变异。