- San Diego CA, US Tingting Jiang - San Diego CA, US Adam Birnbaum - San Diego CA, US Rami Mehio - San Diego CA, US Severine Catreux - San Diego CA, US Seong Won Cha - San Diego CA, US
International Classification:
G16B 30/10 C12N 15/10 G16B 40/20
Abstract:
Disclosed herein include systems, devices, and methods for grouping sequence reads and collapsing families of sequence reads that originate from the same DNA molecules using UMIs.
Fragment Size Characterization Of Cell-Free Dna Mutations From Clonal Hematopoiesis
Methods and systems are provided for differentiating between cancer variants and somatic variants originating from hematopoietic cells in a cell free DNA sample. In some embodiments, the cancer variants can be distinguished from a somatic variants originating from hematopoietic cells based on fragment size distribution.
Validation Methods And Systems For Sequence Variant Calls
- San Diego CA, US Chen Zhao - San Diego CA, US Jessica Gordon - San Diego CA, US Shile Zhang - San Diego CA, US Tingting Jiang - San Diego CA, US Gwenn Berry - San Diego CA, US Yesha Shah - San Diego CA, US Han-Yu Chuang - San Diego CA, US
International Classification:
G16B 20/20 G16B 30/00 G06F 17/18
Abstract:
Methods and systems are provided for validating variant calls. Sequencing data is received for a sample read along the genomic sequence of interest. An indication is received of a potential variant call at a designated position within the sequence of nucleotides along the genomic sequence of interest. The methods and systems obtain baseline variant frequencies at the designated position within one or more baseline genomic sequences, determine a sample variant frequency at the designated position for the genomic sequence of interest, analyze the baseline and sample variant frequencies at the designated position to obtain a quality score, and validate the potential variant call for the genomic sequence of interest based on the quality score.