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Cancer Science, ISSN 1347-9032, 02/2017, Volume 108, Issue 2, pp. 170 - 177
Journal Article
JAMA pediatrics, ISSN 2168-6203, 12/2017, Volume 171, Issue 12, pp. e173438 - e173438
Journal Article
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2016, Volume 113, Issue 42, pp. 11901 - 11906
We report on the sequencing of 10,545 human genomes at 30×–40× coverage with an emphasis on quality metrics and novel variant and sequence discovery. We find that 84... 
Human genetic diversity | Genomics | Noncoding genome | POPULATION | human genetic diversity | X-CHROMOSOME | MULTIDISCIPLINARY SCIENCES | GUIDELINES | PATTERNS | noncoding genome | RARE VARIANTS | GENETICS | DISEASE | genomics | WHOLE-EXOME | SCALE | ASSOCIATION | Genetic research | Research | Nucleotide sequencing | Human genome | DNA sequencing | Biological Sciences
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2019, Volume 393, Issue 10173, pp. 747 - 757
.... Testing for aneuploidy and CNVs is routine during the investigation of fetal structural anomalies, but there is little information on the clinical usefulness of genome-wide next-generation sequencing... 
PRIMARY CILIARY DYSKINESIA | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | MUTATIONS CAUSE | DEFECTS | WHOLE-GENOME | KBG SYNDROME | MOLECULAR FINDINGS | FETUSES | NR2F2 | KABUKI SYNDROME | Fetus - abnormalities | Congenital Abnormalities - epidemiology | Fetus - diagnostic imaging | Prospective Studies | Humans | Parents | Perinatal Death - etiology | Male | DNA Copy Number Variations - genetics | Whole Exome Sequencing - methods | Abnormal Karyotype - embryology | Congenital Abnormalities - diagnosis | Pregnancy | Abortion, Spontaneous - epidemiology | Congenital Abnormalities - genetics | Nuchal Translucency Measurement | Stillbirth - epidemiology | Abnormal Karyotype - statistics & numerical data | Female | Live Birth - epidemiology | Fetal Development - genetics | Abortion, Eugenic - statistics & numerical data | Infant, Newborn | Whole Exome Sequencing - statistics & numerical data | Ultrasound imaging | Pregnant women | Heart | Intellectual disabilities | Copy number | Genes | Disorders | Prenatal development | Aneuploidy | Genomes | Gestation | Microcephaly | Genetic screening | Gene sequencing | Disability | Proteins | Parents & parenting | Ultrasonic imaging | Next-generation sequencing | Scoliosis | Heart diseases | Ultrasound | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Research & development--R&D | Fetuses | Abnormalities | Birth defects | Heredity | Hearing impairment | Coronary artery disease | Genetic variance | DNA microarrays | Gene frequency | Diagnostic systems | Cardiovascular diseases | Anomalies
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 5, pp. 1376 - 1383.e3
Journal Article
Cancer, ISSN 0008-543X, 2017, Volume 123, Issue 2, pp. 210 - 218
Journal Article