Connection

FRITZ SEDLAZECK to DNA Copy Number Variations

This is a "connection" page, showing publications FRITZ SEDLAZECK has written about DNA Copy Number Variations.
Connection Strength

1.604
  1. Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin. Mol Ecol. 2017 Sep; 26(18):4712-4724.
    View in: PubMed
    Score: 0.388
  2. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. BMC Med Genomics. 2024 10 24; 17(1):255.
    View in: PubMed
    Score: 0.163
  3. Single-cell somatic copy number variants in brain using different amplification methods and reference genomes. Commun Biol. 2024 Oct 09; 7(1):1288.
    View in: PubMed
    Score: 0.162
  4. Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations. Mol Genet Genomics. 2024 Jul 07; 299(1):65.
    View in: PubMed
    Score: 0.160
  5. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122.
    View in: PubMed
    Score: 0.142
  6. High resolution copy number inference in cancer using short-molecule nanopore sequencing. Nucleic Acids Res. 2021 12 02; 49(21):e124.
    View in: PubMed
    Score: 0.133
  7. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
    View in: PubMed
    Score: 0.111
  8. Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish. Mol Ecol. 2019 03; 28(6):1491-1505.
    View in: PubMed
    Score: 0.110
  9. Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast. Nat Commun. 2017 01 24; 8:14061.
    View in: PubMed
    Score: 0.095
  10. Small variant benchmark from a complete assembly of X and Y chromosomes. Nat Commun. 2025 Jan 08; 16(1):497.
    View in: PubMed
    Score: 0.041
  11. Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
    View in: PubMed
    Score: 0.041
  12. Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. Genome Res. 2020 09; 30(9):1258-1273.
    View in: PubMed
    Score: 0.031
  13. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
    View in: PubMed
    Score: 0.028
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.