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Literature 同步
  • 16s
  • A_needRead
  • alignment
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    • alternative splicing
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  • Calling Somatic SNVs and Indels with Mutect2


  • The mutation spectrum revealed by paired genome sequences from a lung cancer patient


  • The landscape of somatic copy-number alteration across human cancers


  • The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data


  • Scaling accurate genetic variant discovery to tens of thousands of samples


  • Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants


  • Protocol for unbiased, consolidated variant calling from whole exome sequencing data


  • Mapping short DNA sequencing reads and calling variants using mapping quality scores


  • From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline


  • Fast and accurate short read alignment with Burrows-Wheeler transform


  • Discovery and genotyping of genome structural polymorphism by sequencing on a population scale


  • Defining “mutation” and “polymorphism” in the era of personal genomics


  • Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data


  • Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization


  • Analysis of genetic inheritance in a family quartet by whole-genome sequencing


  • A universal SNP and small-indel variant caller using deep neural networks


  • A framework for variation discovery and genotyping using next-generation DNA sequencing data


  • A comprehensive catalogue of somatic mutations from a human cancer genome


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