Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer

ALH Webster, MA Sanders, K Patel, R Dietrich… - Nature, 2022 - nature.com
DNA was captured on a Qiagen Genomic Tip column, washed, and eluted by gravity flow. …
any platform-specific bias, we ran this analysis on both WGS and genome-wide CNV array

Genotyping and sequencing technologies in population genetics and genomics

JA Holliday, EM Hallerman, DC Haak - Population genomics: Concepts …, 2019 - Springer
… In addition, AFLPs reflect anonymous restriction sites, which are … Screening sequence
variation in the mitochondrial control … all available platforms have moved toward solution capture, …

Extended kinship analysis of historical remains using SNP capture

EM Gorden, EM Greytak, K Sturk-Andreaggi… - Forensic Science …, 2022 - Elsevier
… Family reference samples were genotyped using a standard SNP microarray. … using
microarray platforms (ie high quality FRS). The first SNP capture panel contained 24,999 genomic

Next-generation characterization of the cancer cell line encyclopedia

M Ghandi, FW Huang, J Jané-Valbuena, GV Kryukov… - Nature, 2019 - nature.com
… expression and reverse-phase protein array data for 1,072 cell lines … of extracted signatures
to 30 COSMIC signatures, we … Therefore, we used an alternative approach to capture gene …

Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing

RN Ptashkin, MD Ewalt, G Jayakumaran… - Nature …, 2023 - nature.com
DNA using a hybridization capture-based next generation … ability of mutation signature
analysis from targeted sequencing of … by clinically validated SNP array platforms. MSK-IMPACT …

[HTML][HTML] AI applications in functional genomics

C Caudai, A Galizia, F Geraci, L Le Pera… - Computational and …, 2021 - Elsevier
… low-dimensional space trying to maintain the variance as much as possible[19]. One of the
main limits of this method is that it can capture only linear correlations between variables. To …

Review of applications of high-throughput sequencing in personalized medicine: barriers and facilitators of future progress in research and clinical application

G Lightbody, V Haberland, F Browne… - Briefings in …, 2019 - academic.oup.com
… , capturing the downstream signals from the genome and … in glioblastoma used Sanger
sequencing and array-based … ensuring the anonymity of patients is routinely achieved through de-…

Detecting copy number variation in next generation sequencing data from diagnostic gene panels

AK Singh, MF Olsen, LAS Lavik, T Vold, F Drabløs… - … Medical Genomics, 2021 - Springer
… labs most commonly use aCGH/SNP microarray and MLPA. … be sequenced using the same
batch of target capturing kit as … testing with respect to anonymity and concluded that the CNV…

Genomic signatures of past and present chromosomal instability in Barrett's esophagus and early esophageal adenocarcinoma

C Bao, RW Tourdot, GJ Brunette, C Stewart… - Nature …, 2023 - nature.com
… laser capture microdissection and subjected to whole-genomePlatform at the Broad Institute,
including base-quality score … for SNP array data 60 , whole-genome sequencing 61 , and …

An organoid biobank for childhood kidney cancers that captures disease and tissue heterogeneity

C Calandrini, F Schutgens, R Oka, T Margaritis… - Nature …, 2020 - nature.com
… organoids can be used as a drug-screening platform, we first … data specific signatures (T10
and T11 48 ) were used in this … We removed ribosomal protein genes and unnamed