Methods and systems for genomic analysis

摘要

A computer-implemented method for processing and/or analyzing nucleic acid sequencing data comprises receiving a first data input and a second data input. The first data input comprises untargeted sequencing data generated from a first nucleic acid sample obtained from a subject. The second data input comprises target-specific sequencing data generated from a second nucleic acid sample obtained from the subject. Next, with the aid of a computer processor, the first data input and the second data input are combined to produce a combined data set. Next, an output derived from the combined data set is generated. The output is indicative of the presence or absence of one or more polymorphisms of the first nucleic acid sample and/or the second nucleic acid sample.

主权项

1. A method of genetic analysis of a biological sample of a subject, comprising:
a. sequencing a first nucleic acid sample derived from said biological sample of said subject by untargeted sequencing to generate untargeted sequencing data, wherein said untargeted sequencing data comprises from about 300 megabases to 10 gigabases and has a coverage that is less than 100% of a full coverage of a genome of said subject in said biological sample; b. sequencing a second nucleic acid sample derived from said biological sample of said subject by target-specific sequencing to generate target-specific sequencing data, wherein said target-specific sequencing comprises target-specific whole exome sequencing; c. combining, with the aid of a computer processor, said untargeted sequencing data and said target-specific sequencing data to produce a combined data set; and d. generating, with the aid of a computer processor, an output derived from said combined data set, wherein said output is indicative of a presence or absence of one or more polymorphisms in said first nucleic acid sample and said second nucleic acid sample, thereby identifying a presence or absence of one or more polymorphisms in said biological sample of said subject.