Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure

L Balagué-Dobón, A Cáceres… - Briefings in …, 2022 - academic.oup.com
Single nucleotide polymorphisms (SNPs) are the most abundant type of genomic variation
and the most accessible to genotype in large cohorts. However, they individually explain a …

In uveal melanoma Gα-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal …

F Piaggio, M Croce, F Reggiani, P Monti… - European Journal of …, 2022 - Elsevier
Background and aim of the study Mutations in the Gα-genes GNAQ and GNA11 are found in
85–90% of uveal melanomas (UM). Aim of the study is to understand whether the mutations …

Method of measuring a fractional concentration of tumor DNA

YMD Lo, RWK Chiu, KC Chan, P Jiang - US Patent 11,261,494, 2022 - Google Patents
(57) ABSTRACT A frequency of somatic mutations in a biological sample (eg, plasma or
serum) of a subject undergoing screening or monitoring for cancer, can be compared with …

Detecting mutations and ploidy in chromosomal segments

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2022 - Google Patents
The invention provides methods, systems, and computer readable medium for detecting
ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide …

Detecting mutations and ploidy in chromosomal segments

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2022 - Google Patents
The invention provides methods, systems, and computer readable medium for detecting
ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide …

Methods for non-invasive prenatal paternity testing

A Ryan, S Sigurjonsson, M Banjevic… - US Patent …, 2022 - Google Patents
Methods for non-invasive prenatal paternity testing are disclosed herein. The method uses
genetic measurements made on plasma taken from a pregnant mother, along with genetic …

Detecting mutations and ploidy in chromosomal segments

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2022 - Google Patents
The invention provides methods, systems, and computer readable medium for detecting
ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide …

Detecting mutations and ploidy in chromosomal segments

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2022 - Google Patents
The invention provides methods, systems, and computer readable medium for detecting
ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide …

System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals

M Rabinowitz, M Banjevic, Z Demko… - US Patent …, 2022 - Google Patents
Mar. 11, 2013, now Pat. No. 9,424,392, and a continuation of application No. 13/793,186,
filed on Mar. 11, 2013, now Pat. No. 8,682,592, said application No. 13/793,133 is a …

Detecting mutations and ploidy in chromosomal segments

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2022 - Google Patents
The invention provides methods, systems, and computer readable medium for detecting
ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide …