Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

M Tetreault, E Bareke, J Nadaf, N Alirezaie… - Expert review of …, 2015 - Taylor & Francis
Whole-exome sequencing (WES) represents a significant breakthrough in the field of human
genetics. This technology has largely contributed to the identification of new disease …

Using high-throughput SNP technologies to study cancer

LJ Engle, CL Simpson, JE Landers - Oncogene, 2006 - nature.com
Identifying genes involved in the development of cancer is crucial to fully understanding
cancer biology, for develo** novel therapeutics for cancer treatment and for providing …

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genoty** arrays

Y Nannya, M Sanada, K Nakazaki, N Hosoya, L Wang… - Cancer research, 2005 - AACR
We have developed a robust algorithm for copy number analysis of the human genome
using high-density oligonucleotide microarrays containing 116,204 single-nucleotide …

[HTML][HTML] BRAF mutation is rare in advanced-stage low-grade ovarian serous carcinomas

KK Wong, YTM Tsang, MT Deavers, SC Mok… - The American journal of …, 2010 - Elsevier
Low-grade ovarian serous carcinomas are believed to arise via an adenoma-serous
borderline tumor-serous carcinoma sequence. In this study, we found that advanced-stage …

Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias

M Raghavan, DM Lillington, S Skoulakis, S Debernardi… - Cancer research, 2005 - AACR
Genome-wide analysis of single nucleotide polymorphisms in 64 acute myeloid leukemias
has revealed that∼ 20% exhibited large regions of homozygosity that could not be …

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs

HR Slater, DK Bailey, H Ren, M Cao, K Bell… - The American Journal of …, 2005 - cell.com
Mutation of the human genome ranges from single base-pair changes to whole-
chromosome aneuploidy. Karyoty**, fluorescence in situ hybridization, and comparative …

Methods for non-invasive prenatal ploidy calling

M Rabinowitz, G Gemelos, M Banjevic, A Ryan… - US Patent …, 2022 - Google Patents
The present disclosure provides methods for determining the ploidy status of a chromosome
in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising …

Methods for simultaneous amplification of target loci

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2020 - Google Patents
First worldwide family litigation filed litigation Critical https://patents. darts-ip. com/? family=
67068241&utm_source= google_patent&utm_medium= platform_link&utm_campaign …

Methods for simultaneous amplification of target loci

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2020 - Google Patents
First worldwide family litigation filed litigation https://patents. darts-ip. com/? family=
67068241&utm_source= google_patent&utm_medium= platform_link&utm_campaign …

Compositions and methods for identifying nucleic acid molecules

B Zimmermann, R Swenerton, M Rabinowitz… - US Patent …, 2020 - Google Patents
US10577650B2 - Compositions and methods for identifying nucleic acid molecules - Google
Patents US10577650B2 - Compositions and methods for identifying nucleic acid molecules …