Volume 19 Issue 10, October 2017

On the cover | Anne Gregory

“Turning Corners”

Turning Corners (detail), by Anne Gregory (acrylic, 24″ × 24″). “This painting began with overlapping squares that I divided into more and more details, much the same way looking at something very closely reveals its complexity. The title refers to the geometric composition. It also implies going in a new direction—passing a milestone.” More of the artist's work can be seen at http://www.annehearttgregory.com.

In This Issue

In This Issue

In This Issue 05 Oct 2017

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ACMG Standards and Guidelines

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Erin T Strovel
Tina M Cowan
Barry Wolf

Collection:

ACMG Statements and Guidelines
ACMG Standards and Guidelines 05 Jul 2017

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News Briefs

News Briefs

News Briefs 05 Oct 2017

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Systematic Review

Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research

Kathryn A. Phillips
Patricia A. Deverka
Michael P. Douglas
Systematic Review Open Access 13 Apr 2017

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Invited Commentary

A new era in the interpretation of human genomic variation

Heidi L Rehm
Invited Commentary 13 Jul 2017

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Original Research Article

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Steven M. Harrison
Jill S. Dolinsky
Heidi L. Rehm
Original Research Article 16 Mar 2017
Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp
Michael Anderson
Scott Topper
Original Research Article Open Access 11 May 2017
Sources of discordance among germ-line variant classifications in ClinVar

Shan Yang
Stephen E Lincoln
Scott Topper
Original Research Article Open Access 01 Jun 2017
Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death

Richard D. Bagnall
Jodie Ingles
Christopher Semsarian

Focus:

Focus on Vascular Surgery and Cardiology
Original Research Article 23 Mar 2017
21-Gene recurrence score testing among Medicare beneficiaries with breast cancer in 2010–2013

Julie A. Lynch
Brygida Berse
John Kautter

Focus:

Focus on Hematology/Oncology
Original Research Article 23 Mar 2017
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Dorota Monies
Sateesh Maddirevula
Fowzan S. Alkuraya
Original Research Article 06 Apr 2017
Using high-resolution variant frequencies to empower clinical genome interpretation

Nicola Whiffin
Eric Minikel
James S Ware
Original Research Article Open Access 18 May 2017
Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?

Robert J Currier
Stan Sciortino
Lisa Feuchtbaum
Original Research Article 04 May 2017
Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?

Teresa N. Sparks
Kao Thao
Mary E. Norton

Focus:

Focus on Obstetrics and Gynecology
Original Research Article 06 Apr 2017
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Carin L Yates
Kristin G Monaghan
Jane Juusola

Focus:

Focus on Obstetrics and Gynecology
Original Research Article 20 Apr 2017

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Brief Report

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

Marilyn C. Jones
Sarah E. Topol
Ali Torkamani
Brief Report Open Access 06 Apr 2017

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Volume 19 Issue 10, October 2017

In This Issue

In This Issue

ACMG Standards and Guidelines

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

News Briefs

News Briefs

Systematic Review

Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research

Invited Commentary

A new era in the interpretation of human genomic variation

Original Research Article

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Sources of discordance among germ-line variant classifications in ClinVar

Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death

21-Gene recurrence score testing among Medicare beneficiaries with breast cancer in 2010–2013

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Using high-resolution variant frequencies to empower clinical genome interpretation

Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?

Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Brief Report

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

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