公开(公告)号：US20220284986A1

公开(公告)日：2022-09-08

申请号：US17699439

申请日：2022-03-21

Applicant: Life Technologies Corporation

Inventor： Paolo Vatta ,  Onur Sakarya ,  Heinz Breu ,  Liviu Popescu ,  Asim Siddiqui ,  Fiona Hyland

IPC: G16B30/10 ,  G16B30/00

Abstract: Identification of exon junctions includes obtaining a first read sequence based on a detected plurality of signals of a first sequence. A list of exon prefix and suffix sequences are generated by identifying exons of the human genome with a prefix sequence mapping to a suffix sequence of the first read sequence and by identifying exons with a suffix sequence mapping to a prefix sequence of the first read sequence. A pair of exon sequences is selected, with a first exon sequence being one of the exon suffix sequences and a second exon sequence being one of the exon prefix sequences. Summing a number of sequence elements of the first exon sequence that overlap the prefix of the first read sequence, a number of sequence elements of the second exon sequence that overlap the suffix of the first read sequence, and a constant is used to identify a fusion junction.

公开(公告)号：US20180276338A1

公开(公告)日：2018-09-27

申请号：US15928202

申请日：2018-03-22

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Paolo Vatta ,  Onur Sakarya ,  Heinz Breu ,  Liviu Popescu ,  Asim Siddiqui ,  Fiona Hyland

IPC: G06F19/22

CPC classification number: G16B30/00

Abstract: Systems and methods are used to identify an exon junction from a single read of a transcript. A transcript sample is interrogated and a read sequence is produced using a nucleic acid sequencer. A first exon sequence and a second exon sequence are obtained using the processor. The first exon sequence is mapped to a prefix of the read sequence using the processor. The second exon sequence is mapped to a suffix of the read sequence using the processor. A sum of a number of sequence elements of the first exon sequence that overlap the prefix of the read sequence, of a number of sequence elements of the second exon sequence that overlap the suffix of the read sequence, and of a constant is calculated using the processor. If the sum equals a length of the read sequence, a junction is identified in the read using the processor.