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PLoS genetics, ISSN 1553-7390, 2010, Volume 6, Issue 8, pp. e1001049 - e1001049
Journal Article
Science, ISSN 0036-8075, 1/2010, Volume 327, Issue 5961, pp. 78 - 81
Journal Article
Science, ISSN 0036-8075, 6/2012, Volume 336, Issue 6085, pp. 1110 - 1112
Encoded in the DNA sequence of our individual genome is the genetic program to build, maintain, and adapt all our tissues and their functions. Each human... 
Molecular genetics | Human genome | Genomics | Medical genetics | Genomes | Preventive medicine | Genetic diseases | Sequencing | Insect genetics | Human genetics | POLICY FORUM | PATIENT | MUTATIONS | MULTIDISCIPLINARY SCIENCES | GENOME | Deoxyribonucleic acid--DNA | Genetic testing
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2011, Volume 13, Issue 3, pp. 188 - 190
Rapid technological advances are decreasing DNA sequencing costs and making it practical to undertake complete human genome sequencing on a large scale for the... 
whole genome sequencing | genomic medicine | personal genomics | personal genome sequencing | DNA sequencing | personalized medicine | GENETICS & HEREDITY | CANCER GENOME | PATIENT | Risk Assessment | Sequence Analysis - economics | Cost-Benefit Analysis | Humans | Genome, Human - genetics | Precision Medicine - economics | Index Medicus
Journal Article
Nature Biotechnology, ISSN 1087-0156, 06/2015, Volume 33, Issue 6, pp. 617 - 622
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2018, Volume 20, Issue 5, pp. 495 - 502
Purpose: We describe a novel syndrome in seven female patients with extreme developmental delay and neoteny. Methods: All patients in this study were female,... 
AUTISM | whole-genome sequencing | neoteny | INTELLECTUAL DISABILITY | de novo mutation | HUMAN GENOME | DE-NOVO MUTATIONS | DISEASE | GENETICS & HEREDITY | FRAMEWORK | developmental delay | long fragment read technology | COMMON | Index Medicus
Journal Article
Science, ISSN 0036-8075, 08/2012, Volume 337, Issue 6097, pp. 910 - 911
Journal Article
Science, ISSN 0036-8075, 4/2010, Volume 328, Issue 5978, pp. 636 - 639
We analyzed the whole-genome sequences of a family of four, consisting of two siblings and their parents. Family-based sequencing allowed us to delineate... 
Genetic inheritance | Inheritance patterns | Genes | REPORTS | Parents | Genomes | Children | Genetic mutation | Sequencing | Chromosomes | Siblings | NUCLEOTIDE | MIDDLE AWASH | RECOMBINATION | RATES | PLEISTOCENE | MULTIDISCIPLINARY SCIENCES | HUMANS | ETHIOPIA | Limb Deformities, Congenital - genetics | Crossing Over, Genetic | Genetic Association Studies | Humans | Axonemal Dyneins - genetics | Nuclear Family | Male | Genes, Recessive | Sequence Analysis, DNA | Syndrome | Inheritance Patterns | Mandibulofacial Dysostosis - genetics | Algorithms | Genes, Dominant | Pedigree | Alleles | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Abnormalities, Multiple - genetics | Ciliary Motility Disorders - genetics | Heredity | Genetic aspects | Research | Nucleotide sequencing | Brothers and sisters | Identification and classification | Methods | Multiple birth | Families & family life | Genetic disorders | Genomics | Polymorphism | Index Medicus | crossover | haplotype | inheritance state | DNAH5 | inheritance analysis | de novo mutations | haploidentical block | rare genetic disease | HMM | DHODH | whole genome sequencing | haploidentity | KIAA0556 | inheritance vector | recombination hotspot | Miller syndrome | POADS | recessive models | CES1
Journal Article
Journal Article