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  1. Article

    Open Access

    A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry

    Pulmonary function decline is a major contributor to morbidity and mortality among smokers. Post bronchodilator FEV1 and FEV1/FVC ratio are considered the standard assessment of airflow obstruction. We performed ...

    Sharon M. Lutz, Michael H. Cho, Kendra Young, Craig P. Hersh in BMC Genetics (2015)

  2. Article

    Open Access

    A colorectal cancer prediction model using traditional and genetic risk scores in Koreans

    Genome-wide association studies have identified numerous single nucleotide polymorphisms (SNPs) as associated with colorectal cancer (CRC) risk in populations of European descent. However, their utility for pr...

    Keum Ji Jung, Daeyoun Won, Christina Jeon, Soriul Kim, Tae Il Kim in BMC Genetics (2015)

  3. Article

    Open Access

    A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk

    Copy number variants (CNVs) may play an important part in the development of common birth defects such as oral clefts, and individual patients with multiple birth defects (including clefts) have been shown to ...

    Samuel G Younkin, Robert B Scharpf, Holger Schwender, Margaret M Parker in BMC Genetics (2014)

  4. Article

    Open Access

    Fast detection of de novo copy number variants from SNP arrays for case-parent trios

    In studies of case-parent trios, we define copy number variants (CNVs) in the offspring that differ from the parental copy numbers as de novo and of interest for their potential functional role in disease. Amo...

    Robert B Scharpf, Terri H Beaty, Holger Schwender, Samuel G Younkin in BMC Bioinformatics (2012)

  5. Article

    Open Access

    A graphical assessment of p-values from sliding window haplotype tests of association to identify asthma susceptibility loci on chromosome 11q

    Past work on asthmatic African American families revealed a strong linkage peak with modest evidence of association on chromosome 11q. Here, we perform tests of association for asthma and a panel of 609 SNPs i...

    Rasika A Mathias, Peisong Gao, Janet L Goldstein, Alexander F Wilson in BMC Genetics (2006)