Best practices for variant calling in clinical sequencing
DC Koboldt - Genome Medicine, 2020 - Springer
Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
Genomic frontiers in congenital heart disease
The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …
been widely used to investigate protein-coding genes underlying human disorders, but …
A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
Genetics and genomics of congenital heart disease
S Zaidi, M Brueckner - Circulation research, 2017 - Am Heart Assoc
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …
in medical and surgical management, there are now more adults living with congenital heart …
De novo mutations in histone-modifying genes in congenital heart disease
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live
births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for …
births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for …
A copy number variation morbidity map of developmental delay
To understand the genetic heterogeneity underlying developmental delay, we compared
copy number variants (CNVs) in 15,767 children with intellectual disability and various …
copy number variants (CNVs) in 15,767 children with intellectual disability and various …
Genetics of congenital heart disease: the glass half empty
AC Fahed, BD Gelb, JG Seidman… - Circulation research, 2013 - Am Heart Assoc
Congenital heart disease (CHD) is the most common congenital anomaly in newborn
babies. Cardiac malformations have been produced in multiple experimental animal …
babies. Cardiac malformations have been produced in multiple experimental animal …
Phenotypic impact of genomic structural variation: insights from and for human disease
J Weischenfeldt, O Symmons, F Spitz… - Nature Reviews …, 2013 - nature.com
Genomic structural variants have long been implicated in phenotypic diversity and human
disease, but dissecting the mechanisms by which they exert their functional impact has …
disease, but dissecting the mechanisms by which they exert their functional impact has …
Notch and interacting signalling pathways in cardiac development, disease, and regeneration
D MacGrogan, J Münch, JL de la Pompa - Nature Reviews Cardiology, 2018 - nature.com
Cardiogenesis is a complex developmental process involving multiple overlapping stages of
cell fate specification, proliferation, differentiation, and morphogenesis. Precise …
cell fate specification, proliferation, differentiation, and morphogenesis. Precise …