公开(公告)号：US20180307796A1

公开(公告)日：2018-10-25

申请号：US15957622

申请日：2018-04-19

Applicant: Illumina, Inc.

Inventor： Tingting Jiang ,  Chen Zhao ,  Han-Yu Chuang

IPC: G06F19/24 ,  G06F19/18 ,  G06N3/12 ,  G06N3/04

CPC classification number: G06F19/24 ,  C40B30/02 ,  C40B50/02 ,  G06F19/18 ,  G06F19/22 ,  G06N3/0472 ,  G06N3/126

Abstract: Methods and systems are provided for determining a variant of interest by analyzing sizes and sequences of cfDNA fragments obtained from a test sample. The methods and systems provided herein implement processes that synergistically combine size and sequence information, thereby improving specificity and sensitivity of assays over conventional methods.

公开(公告)号：US20180201992A1

公开(公告)日：2018-07-19

申请号：US15863737

申请日：2018-01-05

Applicant: Illumina, Inc.

Inventor： Kevin Wu ,  Chen Zhao ,  Han-Yu Chuang ,  Alex So ,  Stephen Tanner ,  Stephen M. Gross

IPC: C12Q1/6869 ,  C12Q1/6855

CPC classification number: C12Q1/6869 ,  C12Q1/6855 ,  G16B25/00 ,  G16B30/00

Abstract: The disclosed embodiments concern methods, apparatus, systems and computer program products for determining sequences of interest using unique molecular index sequences that are uniquely associable with individual polynucleotide fragments, including sequences with low allele frequencies and long sequence length. In some implementations, the unique molecular index sequences include variable-length nonrandom sequences. In some implementations, the unique molecular index sequences are associated with the individual polynucleotide fragments based on alignment scores indicating similarity between the unique molecular index sequences and subsequences of sequence reads obtained from the individual polynucleotide fragments. System, apparatus, and computer program products are also provided for determining a sequence of interest implementing the methods disclosed.