Nature Search

Genetics and context for precision health in Greater Boston

Using data from 142,238 Mass General Brigham Biobank participants, researchers explored population history and social and genetic risk factors for disease in Greater Boston. The study links genetics and context to guide equitable precision health.

Satoshi Koyama
Ying Wang
Pradeep Natarajan
ResearchOpen Access26 Nov 2025
Nature Communications

Volume: 16, P: 1-15
Development of a clinical polygenic risk score assay and reporting workflow

The first report from the prospective GenoVA Study provides preliminary insights into the development of a polygenic risk score assay in a clinical setting and discusses the challenges of generating, interpreting and reporting results.

Limin Hao
Peter Kraft
Matthew S. Lebo
ResearchOpen Access18 Apr 2022
Nature Medicine

Volume: 28, P: 1006-1013
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

The burden of mosaic chromosomal alterations in blood-derived DNA, a type of clonal hematopoiesis, is associated with an increased risk for diverse types of infections, including sepsis and pneumonia.

Seyedeh M. Zekavat
Shu-Hong Lin
Pradeep Natarajan
Research07 Jun 2021
Nature Medicine

Volume: 27, P: 1012-1024
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

Christopher M Haggerty
Cynthia A James
Brandon K Fornwalt
Research04 May 2017
Genetics in Medicine

Volume: 19, P: 1245-1252
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

Genetic variation predisposes to disease via monogenic and polygenic risk variants. Here, the authors assess the interplay between these types of variation on disease penetrance in 80,928 individuals. In carriers of monogenic variants, they show that disease risk is a gradient influenced by polygenic background.

Akl C. Fahed
Minxian Wang
Amit V. Khera
ResearchOpen Access20 Aug 2020
Nature Communications

Volume: 11, P: 1-9
Genomic data in the All of Us Research Program

A study describes the release of clinical-grade whole-genome sequence data for 245,388 diverse participants by the All of Us Research Program and characterizes the properties of the dataset.

Alexander G. Bick
Ginger A. Metcalf
Joshua C. Denny
ResearchOpen Access19 Feb 2024
Nature

Volume: 627, P: 340-346
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Monica H. Wojcik
Tian Zhang
Timothy W. Yu
Research26 Mar 2021
Genetics in Medicine

Volume: 23, P: 1372-1375
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Matthew S Lebo
Kathleen-Rose Zakoor
Kathleen-Rose Zakoor
Research20 Jul 2017
Genetics in Medicine

Volume: 20, P: 294-302
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

Adam H Buchanan
Kandamurugu Manickam
Michael F Murray
ResearchOpen Access26 Oct 2017
Genetics in Medicine

Volume: 20, P: 554-558
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome

Heather Mason-Suares
Diana Toledo
Matthew S Lebo
Research18 Jan 2017
European Journal of Human Genetics

Volume: 25, P: 509-511
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

Trevor J. Pugh
Sami S. Amr
Matthew S. Lebo
ResearchOpen Access17 Dec 2015
Genetics in Medicine

Volume: 18, P: 712-719
Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

Adam H. Buchanan
Kandamurugu Manickam
Michael F. Murray
Amendments and Corrections13 Oct 2021
Genetics in Medicine

Volume: 23, P: 2470
Correction: Variant classification changes over time in BRCA1 and BRCA2

Chloe Mighton
George S. Charames
Jordan Lerner-Ellis
Amendments and Corrections02 May 2019
Genetics in Medicine

Volume: 21, P: 2406-2407
Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

Deanna G. Brockman
Christina A. Austin-Tse
Miriam S. Udler
Research11 May 2021
Genetics in Medicine

Volume: 23, P: 1689-1696
Variant classification changes over time in BRCA1 and BRCA2

Chloe Mighton
George S. Charames
Jordan Lerner-Ellis
Research11 Apr 2019
Genetics in Medicine

Volume: 21, P: 2248-2254
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

Ozlem Senol-Cosar
Ryan J. Schmidt
Matthew S. Lebo
Research31 May 2019
Genetics in Medicine

Volume: 21, P: 2765-2773
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers

Rashesh V Sanghvi
Christian J Buhay
Nikhil Wagle
Research16 Nov 2017
Genetics in Medicine

Volume: 20, P: 855-866
Airmen and health-care providers’ attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project

Stacey Pereira
Rebecca L. Hsu
Amy L. McGuire
Research18 Aug 2020
Genetics in Medicine

Volume: 22, P: 2003-2010
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

Casie A. Genetti
Talia S. Schwartz
Timothy W. Yu
Research13 Sept 2018
Genetics in Medicine

Volume: 21, P: 622-630
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Trevor J. Pugh
Melissa A. Kelly
Birgit H. Funke
Research06 Feb 2014
Genetics in Medicine

Volume: 16, P: 601-608
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

Peter Tarczy-Hornoch
Laura Amendola
Yaping Yang
Research26 Sept 2013
Genetics in Medicine

Volume: 15, P: 824-832
Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation

Sami S. Amr
Saeed H. Al Turki
Ahmad N. Abou Tayoun
Research22 Sept 2016
Genetics in Medicine

Volume: 19, P: 496-504
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Diana Mandelker
Ryan J. Schmidt
Birgit Funke
Research26 May 2016
Genetics in Medicine

Volume: 18, P: 1282-1289
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Ahmed A. Alfares
Melissa A. Kelly
Heidi L. Rehm
Research22 Jan 2015
Genetics in Medicine

Volume: 17, P: 880-888
A curated gene list for reporting results of newborn genomic sequencing

Ozge Ceyhan-Birsoy
Kalotina Machini
Heidi L. Rehm
Research12 Jan 2017
Genetics in Medicine

Volume: 19, P: 809-818
Neptune: an environment for the delivery of genomic medicine

Venner Eric
Victoria Yi
Hana Zouk
Research13 Jul 2021
Genetics in Medicine

Volume: 23, P: 1838-1846
American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders

Linda D. Cooley
Matthew Lebo
Daynna J. Wolff
Research25 Apr 2013
Genetics in Medicine

Volume: 15, P: 484-494

Search

Genetics and context for precision health in Greater Boston

Development of a clinical polygenic risk score assay and reporting workflow

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

Genomic data in the All of Us Research Program

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

Correction: Variant classification changes over time in BRCA1 and BRCA2

Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

Variant classification changes over time in BRCA1 and BRCA2

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers

Airmen and health-care providers’ attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

A curated gene list for reporting results of newborn genomic sequencing

Neptune: an environment for the delivery of genomic medicine

American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders

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