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Untitled
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A comprehensive catalogue of somatic mutations from a human cancer genome
STN833XP
111
A framework for variation discovery and genotyping using next-generation DNA sequencing data
IRELQVJT
111
A universal SNP and small-indel variant caller using deep neural networks
K5B4CLCN
111
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
XUMEG3KA
111
Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization
AG83SQRT
111
Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data
ZMGUBN9R
111
Defining “mutation” and “polymorphism” in the era of personal genomics
CMBAL8WU
111
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
RTHA27BJ
111
Fast and accurate short read alignment with Burrows-Wheeler transform
DUZHL488
111
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline
8QGC7UBN
111
Mapping short DNA sequencing reads and calling variants using mapping quality scores
PGYVE3WC
111
Protocol for unbiased, consolidated variant calling from whole exome sequencing data
7RE7TLRX
111
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants
IHLN3HQS
111
Scaling accurate genetic variant discovery to tens of thousands of samples
XASGD4VN
111
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
IMF38VG2
111
The landscape of somatic copy-number alteration across human cancers
NQTWWXRJ
111
The mutation spectrum revealed by paired genome sequences from a lung cancer patient
S95APWAR
111