Searching journal content for articles similar to Collins et al. 11 (6): 1034.

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  1. ...-Y with the CHM13 reference, along with population variation, clinical variants, and functional genomics data, has created a comprehensive reference for all 24 human chromosomes. The use of the T2T-CHM13 as a reference broadly improves our ability to detect variation in human s. Specifically, T2T-CHM13 improves...
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  2. ...reads long enough to span and resolve complex or repetitive regions of the . Several groups have shown the power of long reads in detecting thousands of genomic and epigenomic features that were previously missed by short-read sequencing approaches. While these studies demonstrate how long reads can...
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  3. ...DNA extracted from frozen/tumor breast tissue. Finally, to ensure reproducibility and compatibility with DNA-seq, we performed technical replicates on the target captures and included a control DNA-seq using the same source of starting material, respectively.For WGS, ∼150 ng of NA12878 genomic DNA...
  4. ...Comprehensive analysis of structural variants in breast cancer s using single-molecule sequencing Sergey Aganezov1, Sara Goodwin2, Rachel M. Sherman1, Fritz J. Sedlazeck3, Gayatri Arun2, Sonam Bhatia2, Isac Lee4, Melanie Kirsche1, Robert Wappel2, Melissa Kramer2, Karen Kostroff5, David L. Spector2...
  5. ..., Tallahassee, Florida 32306, USA Corresponding author: xfan2@fsu.eduAbstractSingle-cell DNA sequencing enables the construction of evolutionary trees that can reveal how tumors gain mutations and grow. Different whole- amplification procedures render genomic materials of different characteristics, often...
  6. ...) Position of germline mutations in BRCA1 and BRCA2 present in 560 breast cancers sequences as part of the International Cancer Genome Consortium. (B) Median estimated number of COSMIC SBS2, SBS13, and SBS2 + SBS13 mutations in breast cancers from BRCA-proficient and BRCA-mutant patients. (C) Replication...
  7. ...of about 308,000 cells from the rumen tissues of sheep and goats at 17 time points. We built comprehensive transcriptome and meta atlases from early embryonic to rumination stages, and recapitulated histomorphometric and transcriptional features of the rumen, revealing key transitional signatures...
  8. ...clinical outcomes (Ragnarsson et al. 1999; Bhosale et al. 2017). Previous studies have reported the presence of CTC-like genomic gains on Chromosome 19 at a low frequency in primary breast cancer (Kanwar et al. 2015). Furthermore, several studies have suggested that gains on Chromosome 19 may have a role...
  9. ...Comprehensive analysis of indels in whole- microsatellite regions and microsatellite instability across 21 cancer types Akihiro Fujimoto1,2,3, Masashi Fujita1, Takanori Hasegawa4, Jing Hao Wong2,3, Kazuhiro Maejima1, Aya Oku-Sasaki1, Kaoru Nakano1, Yuichi Shiraishi5,6, Satoru Miyano4,6, Go Yamamoto...
  10. ....3 amplicons while simultaneously deleting the intervening BRCA1 tumor suppressor locus. This series of events appeared to be unusually common when examined in larger genomic data sets of breast cancers albeit using approaches with lesser resolution. Using siRNAs in breast cancer cell lines, we showed...
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