E-viri
PDF
Recenzirano
Odprti dostop
-
Raczy, Come; Petrovski, Roman; Saunders, Christopher T; Chorny, Ilya; Kruglyak, Semyon; Margulies, Elliott H; Chuang, Han-Yu; Källberg, Morten; Kumar, Swathi A; Liao, Arnold; Little, Kristina M; Strömberg, Michael P; Tanner, Stephen W
Bioinformatics, 08/2013, Letnik: 29, Številka: 16Journal Article
An ultrafast DNA sequence aligner (Isaac Genome Alignment Software) that takes advantage of high-memory hardware (>48 GB) and variant caller (Isaac Variant Caller) have been developed. We demonstrate that our combined pipeline (Isaac) is four to five times faster than BWA + GATK on equivalent hardware, with comparable accuracy as measured by trio conflict rates and sensitivity. We further show that Isaac is effective in the detection of disease-causing variants and can easily/economically be run on commodity hardware. Isaac has an open source license and can be obtained at https://github.com/sequencing.
