Searching journal content for articles similar to King et al. 24 (4): 673.

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  1. Method: Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance
    • Christopher J. Yoon,
    • Su Yeon Kim,
    • Chang Hyun Nam,
    • Junehawk Lee,
    • Jung Woo Park,
    • Jihyeob Mun,
    • Seongyeol Park,
    • Soyoung Lee,
    • Boram Yi,
    • Kyoung Il Min,
    • Brian Wiley,
    • Kelly L. Bolton,
    • Jeong Ho Lee,
    • Eunjoon Kim,
    • Hee Jeong Yoo,
    • Jong Kwan Jun,
    • Ji Seon Choi,
    • Malachi Griffith,
    • Obi L. Griffith,
    • and Young Seok Ju
    Genome Res. November/December 2022 32: 2134-2144; Published in Advance December 6, 2022, doi:10.1101/gr.276794.122
    ...interactions are implicated in autism spectrum disorder. Mol Psychiatry doi:10.1038/s41380-022-01697-2 ↵King DA, Fitzgerald TW, Miller R, Canham N, Clayton-Smith J, Johnson D, Mansour S, Stewart F, Vasudevan P, Hurles ME, et al. 2014. A novel method for detecting uniparental disomy from trio genotypes...
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  2. Method: The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects
    • Maureen Pittman,
    • Kihyun Lee,
    • Franco Felix,
    • Yu Huang,
    • Adrienne Lam,
    • Mauro W. Costa,
    • Deepak Srivastava,
    • and Katherine S. Pollard
    Genome Res. February 2026 36: 330-347; Published in Advance December 12, 2025, doi:10.1101/gr.281141.125
    ...-occurring damaging variants in probands at a higher rate than expected given parental genotypes. We implement this approach in software called Gene Combinations in Oligogenic Disease (GCOD) and apply it to a cohort of 3377 CHD trios with exome sequencing. This analysis detects 160 gene pairs in which damaging...
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  3. Method: Detection of structural mosaicism from targeted and whole-genome sequencing data
    • Daniel A. King,
    • Alejandro Sifrim,
    • Tomas W. Fitzgerald,
    • Raheleh Rahbari,
    • Emma Hobson,
    • Tessa Homfray,
    • Sahar Mansour,
    • Sarju G. Mehta,
    • Mohammed Shehla,
    • Susan E. Tomkins,
    • Pradeep C. Vasudevan,
    • Matthew E. Hurles,
    • and The Deciphering Developmental Disorders Study
    Genome Res. October 2017 27: 1704-1714; Published in Advance August 30, 2017, doi:10.1101/gr.212373.116
    ...data from 4911 children with developmental disorders and identified 11 structural mosaic events in nine individuals, six of whom exhibited tissue-specific mosaicism. Results We developed a new computational method, MrMosaic, to detect structural mosaic abnormalities (copy number and loss...
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  4. Method: Aberrant landscapes of maternal meiotic crossovers contribute to aneuploidies in human embryos
    • Daniel Ariad,
    • Svetlana Madjunkova,
    • Mitko Madjunkov,
    • Siwei Chen,
    • Rina Abramov,
    • Clifford Librach,
    • and Rajiv C. McCoy
    Genome Res. January 2024 34: 70-84; Published in Advance December 1, 2023, doi:10.1101/gr.278168.123
    ...of crossovers based on genotyping of haploid gametes or multigeneration pedigrees (e.g., parent–offspring trios), again limiting the scale and availability of relevant data sets (Auton and McVean 2007; Halldorsson et al. 2019; Spence and Song 2019; Adrion et al. 2020). Moreover, most of these methods...
  5. Research: De novo rates and selection of large copy number variation
    • Andy Itsara,
    • Hao Wu,
    • Joshua D. Smith,
    • Deborah A. Nickerson,
    • Isabelle Romieu,
    • Stephanie J. London,
    • and Evan E. Eichler
    Genome Res. November 2010 20: 1469-1481; Published in Advance September 14, 2010, doi:10.1101/gr.107680.110
    ...with any other CNV detected in the HapMap. To confirm chromosomal transmission and exclude errors in sample labeling and large-scale uniparental disomy, 100 random SNPs were selected on each autosome (2200 SNPs total) and tested for Mendelian inheritance. Parent–child relationships were confirmed...
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