| 主权项 |
1. A system for processing genetic sequence data from a genomic sequencing device, the system comprising:
an input for receiving the genetic sequence data from a sequencing of a sample from a human subject by the genomic sequencing device; a plurality of nodes connected to each other, each node comprising:
a computer server including one or more processors;a programmable logic device having an alignment engine that is programmed to perform alignment of the genetic sequence data to reference sequences retrieved by a memory controller from a first memory, thereby obtaining aligned genetic sequence data;a communication bus between the computer server and the programmable logic device for transferring sequence reads of the genetic sequence data from the computer server to the alignment engine and for transferring instructions to the memory controller configured to retrieve the reference sequences from the first memory; andnetwork connections to other nodes for transferring aligned reads identified by an alignment demultiplexer, wherein the alignment demultiplexer is configured to identify which node is responsible for a genomic region corresponding to an aligned read,wherein the computer server is configured to:
sort, based on location, aligned reads generated by the node and received from other nodes, thereby obtaining a sorted list of aligned reads,split the sorted list into N sorted regions, andperform a multi-threaded execution of a variant analysis and a structural variant analysis on the aligned reads of the N sorted regions, each thread operating on aligned reads of one of the N sorted regions; wherein the computer servers are configured to perform the variant analysis and the structural variant analysis on said aligned genetic sequence data having at least about thirty times coverage of a human genome, wherein the alignment, variant analysis, and the structural analysis is performed in a time period less than or equal to about 4 hours. |
