Use of WGS for Diagnosis and Discovery in the Cancer Genetics Clinic

A general framework for estimating the relative pathogenicity of human genetic variants

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

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Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

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Genome sequencing identifies major causes of severe intellectual disability

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Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

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Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

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Diagnostic clinical genome and exome sequencing.

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Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

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Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.

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Breast-cancer risk in families with mutations in PALB2.

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

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Whole-Genome Sequencing for Optimized Patient Management

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Genetic risk factors for pancreatic disorders.

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Multiplex genetic testing for cancer susceptibility: out on the high wire without a net?

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Rubinstein–Taybi syndrome: clinical and molecular overview

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Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

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First FDA authorization for next-generation sequencer.

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Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

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Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

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DLC-1 gene inhibits human breast cancer cell growth and in vivo tumorigenicity

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Molecular cloning of a candidate tumor suppressor gene, DLC1, from chromosome 3p21.3.

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DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS

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Promoter hypermethylation of DLC-1, a candidate tumor suppressor gene, in several common human cancers.

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Use of panel tests in place of single gene tests in the cancer genetics clinic

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Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

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Analysis of Induced Pluripotent Stem Cells from a BRCA1 Mutant Family

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Screening of R122H and N29I Mutations in the PRSS1 Gene and N34S Mutation in the SPINK1 Gene in Mexican Pediatric Patients With Acute and Recurrent Pancreatitis

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Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.

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Clinical decisions. Screening an asymptomatic person for genetic risk.

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