Genotyping technologies for genetic research

J Ragoussis - Annual review of genomics and human genetics, 2009 - annualreviews.org
The past few years have seen enormous advances in genotyping technology, including
chips that accommodate in excess of 1 million SNP assays. In addition, the cost per …

Advances in ligase chain reaction and ligation-based amplifications for genotyping assays: Detection and applications

AA Gibriel, O Adel - Mutation Research/Reviews in Mutation Research, 2017 - Elsevier
Genetic variants have been reported to cause several genetic diseases. Various genotyping
assays have been developed for diagnostic and screening purposes but with certain …

Large‐scale development of cost‐effective SNP marker assays for diversity assessment and genetic mapping in chickpea and comparative mapping in legumes

PJ Hiremath, A Kumar, RV Penmetsa… - Plant biotechnology …, 2012 - Wiley Online Library
A set of 2486 single nucleotide polymorphisms (SNPs) were compiled in chickpea using four
approaches, namely (i) Solexa/Illumina sequencing (1409),(ii) amplicon sequencing of …

System and method for cleaning noisy genetic data and determining chromosome copy number

M Rabinowitz, M Banjevic, Z Demko… - US Patent …, 2019 - Google Patents
Disclosed herein is a system and method for increasing the fidelity of measured genetic
data, for making allele calls, and for determining the state of aneuploidy, in one or a small …

Methods and compositions for determining ploidy

HE Kirkizlar, R Salari, S Sigurjonsson… - US Patent …, 2022 - Google Patents
The invention provides improved methods, compositions, and kits for detecting ploidy of
chromosome regions, eg for detecting cancer or a chromosomal abnormality in a gestating …

Compositions and methods for identifying nucleic acid molecules

B Zimmermann, R Swenerton, M Rabinowitz… - US Patent …, 2018 - Google Patents
US10011870B2 - Compositions and methods for identifying nucleic acid molecules - Google
Patents US10011870B2 - Compositions and methods for identifying nucleic acid molecules …

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 …

Cell free DNA diagnostic testing standards

J Babiarz, B Zimmermann - US Patent 9,499,870, 2016 - Google Patents
Embodiments of the invention include methods and com positions for producing proficiency
testing standards for noninvasive prenatal genetic diagnostics and for the detec tion and …

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
The invention provides methods for simultaneously amplifying multiple nucleic acid regions
of interest in one reaction volume as well as methods for selecting a library of primers for use …