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
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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.
Score: 0.388
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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.
Score: 0.163
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Single-cell somatic copy number variants in brain using different amplification methods and reference genomes. Commun Biol. 2024 Oct 09; 7(1):1288.
Score: 0.162
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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.
Score: 0.160
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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.
Score: 0.142
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High resolution copy number inference in cancer using short-molecule nanopore sequencing. Nucleic Acids Res. 2021 12 02; 49(21):e124.
Score: 0.133
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.111
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Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish. Mol Ecol. 2019 03; 28(6):1491-1505.
Score: 0.110
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Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast. Nat Commun. 2017 01 24; 8:14061.
Score: 0.095
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Small variant benchmark from a complete assembly of X and Y chromosomes. Nat Commun. 2025 Jan 08; 16(1):497.
Score: 0.041
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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.
Score: 0.041
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Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. Genome Res. 2020 09; 30(9):1258-1273.
Score: 0.031
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.028