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

[HTML][HTML] 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

[HTML][HTML] 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 …

[HTML][HTML] 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 …

Molecular, Genetic, and Other Omics Data

SM Meystre, R Gouripeddi, AV Alekseyenko - Clinical Research …, 2023 - Springer
… of a small number of anonymous donors. … of the number of times each sequence variant has
been observed in each of … These focus on capturing the representation of various genes in a …

[HTML][HTML] 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…

[HTML][HTML] Pan-genome analysis of 13 Malus accessions reveals structural and sequence variations associated with fruit traits

T Wang, S Duan, C Xu, Y Wang, X Zhang, X Xu… - Nature …, 2023 - nature.com
sequencing and chromosome conformation capture (Hi-C) … the GS genome assembly reached
the “gold standard” level (LAI … were constructed and sequenced on NovaSeq platform. The …

[PDF][PDF] DNA methylation dynamics and dysregulation delineated by high-throughput profiling in the mouse

W Zhou, T Hinoue, B Barnes, O Mitchell, W Iqbal… - Cell genomics, 2022 - cell.com
… We have developed a mouse DNA methylation array that … Notably, we find that tissue-specific
methylation signatures … assay platform, as observed in our human array studies,20,99 …

[PDF][PDF] Computing genomic signatures using de bruijn chains

LS Heath, A Pati - Submitted to IEEE/ACM TCBB, 2021 - apc.aast.edu
… regions of conserved or divergent gene order. Genomic signatures work by capturing one or
more such features … We also thank the two anonymous reviewers for their careful feedback. …