55 A genomic map of nearly 300,000 potential cis-regulatory sequences determined from diverse mouse tissues and cell types reveals active promoters, enhancers and CCCTC-binding factor sites encompassing 11% of the mouse genome and significantly expands annotation of mammalian regulatory sequences.
http://www.nature.com/nature/journal/v488/n7409/full/nature11243.html
54 A Systems Genetics Approach Identifies Genes and Pathways for Type 2 Diabetes in Human Islets.
http://www.cell.com/cell-metabolism/abstract/S1550-4131(12)00243-4
53 Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm.
http://www.cell.com/abstract/S0092-8674(12)00789-1
52 Non-invasive prenatal measurement of the fetal genome.
http://www.nature.com/nature/journal/v487/n7407/full/nature11251.html
51 Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.
http://www.nature.com/nature/journal/v487/n7406/full/nature11236.html
50 Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes.
http://www.sciencemag.org/content/337/6090/64.abstract
49 The bonobo genome compared with the chimpanzee and human genomes.
http://www.nature.com/nature/journal/v486/n7404/full/nature11128.html
48 Delayed paternal age of reproduction in humans is associated with longer telomeres across two generations of descendants.
http://www.pnas.org/content/109/26/10251.abstract
47 Sequencing of cell-free fetal-derived DNA from maternal plasma provides a noninvasive way to predict the fetal genome sequence.
http://stm.sciencemag.org/content/4/137/137ra76.abstract
46 Encapsulated engineered myoblasts can cure Hurler syndrome: preclinical experiments in the mouse model.
http://www.nature.com/gt/journal/v19/n4/abs/gt201194a.html
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