TY  -  
T1  - Towards pan-genome read alignment to improve variation calling 
SN  -  /  
UR  - http://hdl.handle.net/10138/235453 
T3  -  
A1  - Valenzuela, Daniel; Norri, Tuukka; Välimäki, Niko; Pitkänen, Esa; Mäkinen, Veli 
A2  -  
PB  -  
Y1  - 2018 
LA  - eng 
AB  - Background: Typical human genome differs from the reference genome at 4-5 million sites. This diversity is increasingly catalogued in repositories such as ExAC/gnomAD, consisting of >15,000 whole-genomes and >126,000 exome sequences from different individuals. Despite this enormous diversity, resequencing data workflows are still based on a single human reference genome. Identification and genotyping of genetic variants is typically carried out on short-read data aligned to a single reference, d... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - Pan-genome reference; Variation calling; Read alignment; BURROWS-WHEELER TRANSFORM; GENETIC-VARIATION; COLLECTIONS; INFERENCE; PROJECT; 3111 Biomedicine; 113 Computer and information sciences 
N1  -   
PP  -  
ER  -