索引
基因分型
单倍型
概率逻辑
计算生物学
计算机科学
体细胞
遗传学
结构变异
生物
人工智能
基因型
基因
单核苷酸多态性
基因组
作者
David Benjamin,Takuto Sato,Kristian Cibulskis,Gad Getz,Chip Stewart,Lee Lichtenstein
摘要
Abstract Mutect2 is a somatic variant caller that uses local assembly and realignment to detect SNVs and indels. Assembly implies whole haplotypes and read pairs, rather than single bases, as the atomic units of biological variation and sequencing evidence, improving variant calling. Beyond local assembly and alignment, Mutect2 is based on several probabilistic models for genotyping and filtering that work well with and without a matched normal sample and for all sequencing depths.
科研通智能强力驱动
Strongly Powered by AbleSci AI